Canonical Allele Identifier: CA2595039443

Gene:

Linked Data

• dbSNP Id: rs2144613976
• gnomAD v3: 17-50211624-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211624T>G , CM000679.2:g.50211624T>G	GRCh38
NC_000017.10:g.48288985T>G , CM000679.1:g.48288985T>G	GRCh37
NC_000017.9:g.45643984T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.43-2211T>G