Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107949437C>T , CM000666.2:g.107949437C>T | GRCh38 |
| NC_000004.11:g.108870593C>T , CM000666.1:g.108870593C>T | GRCh37 |
| NC_000004.10:g.109090042C>T | NCBI36 |
| NG_007961.1:g.22877C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.1376C>T MANE Select | NP_898898.1:p.Pro459Leu |
| ENST00000332884.11:c.1376C>T MANE Select | ENSP00000333212.6:p.Pro459Leu |
| NM_183075.2:c.1376C>T | NP_898898.1:p.Pro459Leu |
| ENST00000332884.10:c.1376C>T | ENSP00000333212.6:p.Pro459Leu |
| ENST00000508453.1:c.749C>T | ENSP00000423667.1:p.Pro250Leu |
| XM_005262717.2:c.1430C>T | XP_005262774.1:p.Pro477Leu |
| XM_005262720.2:c.740C>T | XP_005262777.1:p.Pro247Leu |
| XR_001741783.1:n.156-38888G>A | |
| XR_001741784.1:n.530+29283G>A |