Canonical Allele Identifier: CA2604534813

Gene:

Linked Data

• dbSNP Id: rs2130167607
• gnomAD v3: 8-126999198-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999198A>G , CM000670.2:g.126999198A>G	GRCh38
NC_000008.10:g.128011443A>G , CM000670.1:g.128011443A>G	GRCh37
NC_000008.9:g.128080625A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7357A>G