Canonical Allele Identifier: CA2604450415

Gene:

Linked Data

• dbSNP Id: rs2129881131
• gnomAD v3: 8-125478596-C-G
• gnomAD v4: 8-125478596-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478596C>G , CM000670.2:g.125478596C>G	GRCh38
NC_000008.10:g.126490838C>G , CM000670.1:g.126490838C>G	GRCh37
NC_000008.9:g.126560020C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5282C>G