Canonical Allele Identifier: CA351830450
Gene:

Linked Data

dbSNP Id: rs7640543
gnomAD v3: 3-30420911-G-T
gnomAD v4: 3-30420911-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30420911G>T , CM000665.2:g.30420911G>T GRCh38
NC_000003.11:g.30462403G>T , CM000665.1:g.30462403G>T GRCh37
NC_000003.10:g.30437407G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940686.1:n.1367+29023G>T
XR_940687.1:n.1415+29023G>T
XR_001740627.1:n.801+29023G>T
XR_001740628.1:n.849+29023G>T
XR_427322.3:n.802-15282G>T
XR_940683.2:n.1749C>A