Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11934741G>T , CM000663.2:g.11934741G>T | GRCh38 |
| NC_000001.10:g.11994798G>T , CM000663.1:g.11994798G>T | GRCh37 |
| NC_000001.9:g.11917385G>T | NCBI36 |
| NG_008159.1:g.5053G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.4:c.-39G>T MANE Select | NP_000293.2:n.-39G>T |
| ENST00000196061.5:c.-39G>T MANE Select | ENSP00000196061.4:n.-39G>T |
| NM_000302.3:c.-39G>T | NP_000293.2:n.-39G>T |
| NM_001316320.1:c.-39G>T | NP_001303249.1:n.-39G>T |
| NM_001316320.2:c.-39G>T | NP_001303249.1:n.-39G>T |
| ENST00000358133.5:n.8G>T | |
| ENST00000449038.5:c.-39G>T | ENSP00000414443.1:n.-39G>T |
| ENST00000485046.5:n.119+418G>T |