Canonical Allele Identifier: CA1057529118

Gene:

Linked Data

• dbSNP Id: rs1715478309
• gnomAD v3: 3-187931594-A-C
• gnomAD v4: 3-187931594-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.187931594A>C , CM000665.2:g.187931594A>C	GRCh38
NC_000003.11:g.187649382A>C , CM000665.1:g.187649382A>C	GRCh37
NC_000003.10:g.189132076A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_924814.1:n.1320T>G