Canonical Allele Identifier: CA984456422

Gene:

Linked Data

• dbSNP Id: rs1908570063
• gnomAD v3: 17-50211777-A-G
• gnomAD v4: 17-50211777-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211777A>G , CM000679.2:g.50211777A>G	GRCh38
NC_000017.10:g.48289138A>G , CM000679.1:g.48289138A>G	GRCh37
NC_000017.9:g.45644137A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2058A>G