Canonical Allele Identifier: CA93117871
Gene:

Linked Data

dbSNP Id: rs924207049
gnomAD v3: 4-12577926-G-A
gnomAD v4: 4-12577926-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12577926G>A , CM000666.2:g.12577926G>A GRCh38
NC_000004.11:g.12579550G>A , CM000666.1:g.12579550G>A GRCh37
NC_000004.10:g.12188648G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31416C>T
XR_001741374.1:n.254+44729C>T
XR_925406.3:n.140+31416C>T