Canonical Allele Identifier: CA124443
Gene:

Linked Data

ClinVar Variation Id: 14907
ClinVar RCV Id: RCV000016036
dbSNP Id: rs9264942

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31306603T>C , CM000668.2:g.31306603T>C GRCh38
NC_000006.11:g.31274380T>C , CM000668.1:g.31274380T>C GRCh37
NC_000006.10:g.31382359T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_926691.1:n.949+175A>G
XR_926691.2:n.965+175A>G