Canonical Allele Identifier: CA2596043598

Gene:

Linked Data

• dbSNP Id: rs2117329461
• gnomAD v3: 8-33808177-A-G
• gnomAD v4: 8-33808177-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.33808177A>G , CM000670.2:g.33808177A>G	GRCh38
NC_000008.10:g.33665695A>G , CM000670.1:g.33665695A>G	GRCh37
NC_000008.9:g.33785237A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_949659.1:n.240+11741A>G
XR_002956701.1:n.240+11741A>G