Canonical Allele Identifier: CA943450500

Gene:

Linked Data

• dbSNP Id: rs1861798333
• gnomAD v3: 11-128455663-G-T
• gnomAD v4: 11-128455663-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128455663G>T , CM000673.2:g.128455663G>T	GRCh38
NC_000011.9:g.128325558G>T , CM000673.1:g.128325558G>T	GRCh37
NC_000011.8:g.127830768G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948164.1:n.4383G>T
XR_948165.1:n.3467+916G>T