Canonical Allele Identifier: CA982866018

Gene:

Linked Data

• dbSNP Id: rs1177830982
• gnomAD v3: 17-30237265-A-C
• gnomAD v4: 17-30237265-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237265A>C , CM000679.2:g.30237265A>C	GRCh38
NC_000017.10:g.28564283A>C , CM000679.1:g.28564283A>C	GRCh37
NC_000017.9:g.25588409A>C	NCBI36
NG_011747.2:g.3672T>G

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+195A>C
XR_001752824.1:n.280+195A>C