Canonical Allele Identifier: CA982866761

Gene:

Linked Data

• dbSNP Id: rs1907327780
• gnomAD v3: 17-30237349-G-T
• gnomAD v4: 17-30237349-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237349G>T , CM000679.2:g.30237349G>T	GRCh38
NC_000017.10:g.28564367G>T , CM000679.1:g.28564367G>T	GRCh37
NC_000017.9:g.25588493G>T	NCBI36
NG_011747.2:g.3588C>A

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+279G>T
XR_001752824.1:n.280+279G>T