Canonical Allele Identifier: CA2604534814

Gene:

Linked Data

• dbSNP Id: rs2130167631
• gnomAD v3: 8-126999217-G-C
• gnomAD v4: 8-126999217-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999217G>C , CM000670.2:g.126999217G>C	GRCh38
NC_000008.10:g.128011462G>C , CM000670.1:g.128011462G>C	GRCh37
NC_000008.9:g.128080644G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7338G>C