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Genome build
GRCh38 / hg38
Ensembl gene ID
ENSG00000163132.8
MANE Select transcript
ENST00000382723.5 / NM_002448.3
Ensembl canonical transcript
ENST00000382723.5
Other transcripts
External resources
Ensembl, UCSC Browser,
Constraint
Variant co-occurrence
CategoryExpected SNVsObserved SNVsConstraint metrics
Synonymous194.7253Z = -2.28
o/e = 1.3 (1.17 - 1.44)
01
Missense397.8477Z = -1.45
o/e = 1.2 (1.11 - 1.29)
01
pLoF14.111pLI = 0
o/e = 0.78 (0.49 - 1.29)
01

Constraint metrics based on MANE Select transcript (ENST00000382723.5).

Viewing full gene.
Include:
Positive strand
Mean pext
10