Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.354152T>C , CM000674.2:g.354152T>C | GRCh38 |
| NC_000012.11:g.463318T>C , CM000674.1:g.463318T>C | GRCh37 |
| NC_000012.10:g.333579T>C | NCBI36 |
| NG_046993.1:g.40304A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001042603.3:c.953A>G MANE Select | NP_001036068.1:p.Tyr318Cys |
| ENST00000399788.7:c.953A>G MANE Select | ENSP00000382688.2:p.Tyr318Cys |
| NM_001042603.2:c.953A>G | NP_001036068.1:p.Tyr318Cys |
| ENST00000382815.8:c.953A>G | ENSP00000372265.5:p.Tyr318Cys |
| ENST00000399788.6:c.953A>G | ENSP00000382688.2:p.Tyr318Cys |
| ENST00000544760.1:c.166-19730A>G | ENSP00000440622.1:n.166-19730A>G |