Canonical Allele Identifier: CA984456424

Gene:

Linked Data

• dbSNP Id: rs1908570103
• gnomAD v3: 17-50211781-G-C
• gnomAD v4: 17-50211781-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211781G>C , CM000679.2:g.50211781G>C	GRCh38
NC_000017.10:g.48289142G>C , CM000679.1:g.48289142G>C	GRCh37
NC_000017.9:g.45644141G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2054G>C