Canonical Allele Identifier: CA120443650
Gene:

Linked Data

dbSNP Id: rs903471725
gnomAD v3: 5-66487861-T-C
gnomAD v4: 5-66487861-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.66487861T>C , CM000667.2:g.66487861T>C GRCh38
NC_000005.9:g.65783689T>C , CM000667.1:g.65783689T>C GRCh37
NC_000005.8:g.65819445T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948381.1:n.649-48975T>C