Canonical Allele Identifier: CA173376443

Gene:

Linked Data

• dbSNP Id: rs903239942
• gnomAD v2: 8-19987536-T-A
• gnomAD v3: 8-20130025-T-A
• gnomAD v4: 8-20130025-T-A
• MyVariant Identifiers: chr8:g.19987536T>A (hg19) ; chr8:g.20130025T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.20130025T>A , CM000670.2:g.20130025T>A	GRCh38
NC_000008.10:g.19987536T>A , CM000670.1:g.19987536T>A	GRCh37
NC_000008.9:g.20031816T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949563.1:n.3408+106T>A
XR_949563.2:n.3400+106T>A