Canonical Allele Identifier: CA173376496

Gene:

Linked Data

• dbSNP Id: rs920223578
• gnomAD v3: 8-20130131-G-C
• gnomAD v4: 8-20130131-G-C
• MyVariant Identifiers: chr8:g.19987642G>C (hg19) ; chr8:g.20130131G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130131G>C , CM000670.2:g.20130131G>C	GRCh38
NC_000008.10:g.19987642G>C , CM000670.1:g.19987642G>C	GRCh37
NC_000008.9:g.20031922G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949563.1:n.3408+212G>C
XR_949563.2:n.3400+212G>C