Canonical Allele Identifier: CA1374121549

Gene:

Linked Data

• dbSNP Id: rs1575706446
• gnomAD v3: 3-72266760-C-T
• gnomAD v4: 3-72266760-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266760C>T , CM000665.2:g.72266760C>T	GRCh38
NC_000003.11:g.72315911C>T , CM000665.1:g.72315911C>T	GRCh37
NC_000003.10:g.72398601C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8348G>A