Canonical Allele Identifier: CA1081440111

Gene:

Linked Data

• dbSNP Id: rs1758563548
• gnomAD v3: 5-129387143-C-T
• gnomAD v4: 5-129387143-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129387143C>T , CM000667.2:g.129387143C>T	GRCh38
NC_000005.9:g.128722836C>T , CM000667.1:g.128722836C>T	GRCh37
NC_000005.8:g.128750735C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_427770.2:n.163-1305C>T
XR_948774.1:n.235-5508C>T
XR_001742463.1:n.4089-1305C>T
XR_001742464.1:n.2019-5508C>T
XR_001742465.1:n.401-1305C>T
XR_427770.3:n.337-1305C>T