Canonical Allele Identifier: CA982865598

Gene:

Linked Data

• dbSNP Id: rs1597650273
• gnomAD v3: 17-30237194-A-G
• gnomAD v4: 17-30237194-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237194A>G , CM000679.2:g.30237194A>G	GRCh38
NC_000017.10:g.28564212A>G , CM000679.1:g.28564212A>G	GRCh37
NC_000017.9:g.25588338A>G	NCBI36
NG_011747.2:g.3743T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+124A>G
XR_001752824.1:n.280+124A>G