Canonical Allele Identifier: CA584988385

Gene:

Linked Data

• dbSNP Id: rs1214998178
• gnomAD v2: 8-126490590-G-T
• gnomAD v3: 8-125478348-G-T
• gnomAD v4: 8-125478348-G-T
• MyVariant Identifiers: chr8:g.126490590G>T (hg19) ; chr8:g.125478348G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478348G>T , CM000670.2:g.125478348G>T	GRCh38
NC_000008.10:g.126490590G>T , CM000670.1:g.126490590G>T	GRCh37
NC_000008.9:g.126559772G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5034G>T