Canonical Allele Identifier:
CA2020953560
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21130388G>T , CM000674.2:g.21130388G>T | GRCh38 |
| NC_000012.11:g.21283322G>T , CM000674.1:g.21283322G>T | GRCh37 |
| NC_000012.10:g.21174589G>T | NCBI36 |
| NG_011745.1:g.4195G>T , LRG_1022:g.4195G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543498.5:c.281-11126G>T | ||
| ENST00000585342.5:c.371-735G>T | ENSP00000467594.1:n.371-735G>T | |
| ENST00000590779.5:c.377-735G>T | ||
| ENST00000592513.1:c.358-735G>T | ||
| ENST00000593147.5:c.406-735G>T | ENSP00000467209.1:n.406-735G>T |