Canonical Allele Identifier: CA1081187017

Gene:

Linked Data

• dbSNP Id: rs1749025690
• gnomAD v3: 5-126002867-G-C
• gnomAD v4: 5-126002867-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002867G>C , CM000667.2:g.126002867G>C	GRCh38
NC_000005.9:g.125338560G>C , CM000667.1:g.125338560G>C	GRCh37
NC_000005.8:g.125366459G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948737.1:n.565+3473C>G
XR_948738.1:n.497+5673C>G