Canonical Allele Identifier: CA1118963427

Gene:

Linked Data

• dbSNP Id: rs1815128278
• gnomAD v3: 8-127012508-A-G
• gnomAD v4: 8-127012508-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127012508A>G , CM000670.2:g.127012508A>G	GRCh38
NC_000008.10:g.128024753A>G , CM000670.1:g.128024753A>G	GRCh37
NC_000008.9:g.128093935A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1364+5890A>G