Canonical Allele Identifier: CA982866847

Gene:

Linked Data

• dbSNP Id: rs1260923820
• gnomAD v3: 17-30237372-T-G
• gnomAD v4: 17-30237372-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237372T>G , CM000679.2:g.30237372T>G	GRCh38
NC_000017.10:g.28564390T>G , CM000679.1:g.28564390T>G	GRCh37
NC_000017.9:g.25588516T>G	NCBI36
NG_011747.2:g.3565A>C

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.166-270T>G
XR_001752824.1:n.281-270T>G