Canonical Allele Identifier: CA973101911

Gene:

Linked Data

• dbSNP Id: rs1899530872
• gnomAD v3: 15-95782377-A-C
• gnomAD v4: 15-95782377-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.95782377A>C , CM000677.2:g.95782377A>C	GRCh38
NC_000015.9:g.96325606A>C , CM000677.1:g.96325606A>C	GRCh37
NC_000015.8:g.94126610A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_932654.1:n.148-42812A>C