Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.103049423G>T , CM000675.2:g.103049423G>T | GRCh38 |
| NC_000013.10:g.103701773G>T , CM000675.1:g.103701773G>T | GRCh37 |
| NC_000013.9:g.102499774G>T | NCBI36 |
| NG_016648.1:g.22424C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000452.3:c.785C>A MANE Select | NP_000443.2:p.Thr262Lys |
| ENST00000245312.5:c.785C>A MANE Select | ENSP00000245312.3:p.Thr262Lys |
| NM_000452.2:c.785C>A | NP_000443.1:p.Thr262Lys |
| ENST00000245312.4:c.785C>A | ENSP00000245312.3:p.Thr262Lys |