Canonical Allele Identifier: CA982866916

Gene:

Linked Data

• dbSNP Id: rs1597650501
• gnomAD v3: 17-30237402-T-G
• gnomAD v4: 17-30237402-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237402T>G , CM000679.2:g.30237402T>G	GRCh38
NC_000017.10:g.28564420T>G , CM000679.1:g.28564420T>G	GRCh37
NC_000017.9:g.25588546T>G	NCBI36
NG_011747.2:g.3535A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-240T>G
XR_001752824.1:n.281-240T>G