Canonical Allele Identifier: CA93117923
Gene:

Linked Data

dbSNP Id: rs115411483
gnomAD v2: 4-12579886-A-C
gnomAD v3: 4-12578262-A-C
gnomAD v4: 4-12578262-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578262A>C , CM000666.2:g.12578262A>C GRCh38
NC_000004.11:g.12579886A>C , CM000666.1:g.12579886A>C GRCh37
NC_000004.10:g.12188984A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31080T>G
XR_001741374.1:n.254+44393T>G
XR_925406.3:n.140+31080T>G