Canonical Allele Identifier:
CA351830450
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
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 |