Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101244592A>C , CM000665.2:g.101244592A>C | GRCh38 |
| NC_000003.11:g.100963436A>C , CM000665.1:g.100963436A>C | GRCh37 |
| NC_000003.10:g.102446126A>C | NCBI36 |
| NG_028284.1:g.80984T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016247.4:c.1739T>G MANE Select | NP_057331.2:p.Leu580Ter |
| ENST00000193391.8:c.1739T>G MANE Select | ENSP00000193391.6:p.Leu580Ter |
| NM_016247.3:c.1739T>G | NP_057331.2:p.Leu580Ter |
| ENST00000193391.7:c.1739T>G | ENSP00000193391.6:p.Leu580Ter |
| XM_011512871.1:c.1445T>G | XP_011511173.1:p.Leu482Ter |
| XM_011512872.1:c.1328T>G | XP_011511174.1:p.Leu443Ter |