Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6868402C= , CM000686.2:g.6868402C= | GRCh38 |
| NC_000024.9:g.6736443C= , CM000686.1:g.6736443C= | GRCh37 |
| NC_000024.8:g.6796443C= | NCBI36 |
| NG_008011.1:g.10626G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001143.2:c.208G= MANE Select | NP_001134.1:p.Val70= |
| ENST00000651267.2:c.208G= MANE Select | ENSP00000498344.1:p.Val70= |
| NM_001143.1:c.208G= | NP_001134.1:p.Val70= |
| NM_001364814.1:c.250G= | NP_001351743.1:p.Val84= |
| ENST00000215479.10:c.208G= | ENSP00000215479.5:p.Val70= |
| ENST00000215479.9:c.208G= | ENSP00000215479.5:p.Val70= |
| ENST00000383036.1:c.250G= | ENSP00000372505.1:p.Val84= |
| ENST00000651267.1:c.208G= | ENSP00000498344.1:p.Val70= |
| XM_011531472.1:c.250G= | XP_011529774.1:p.Val84= |