Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55220520A>T , CM000667.2:g.55220520A>T | GRCh38 |
| NC_000005.9:g.54516348A>T , CM000667.1:g.54516348A>T | GRCh37 |
| NC_000005.8:g.54552105A>T | NCBI36 |
| NG_051620.1:g.11796T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001190787.3:c.1004T>A MANE Select | NP_001177716.1:p.Leu335Ter |
| ENST00000513312.3:c.1004T>A MANE Select | ENSP00000426359.1:p.Leu335Ter |
| NM_001190787.1:c.1004T>A | NP_001177716.1:p.Leu335Ter |
| ENST00000513312.1:c.1004T>A | ENSP00000426359.1:p.Leu335Ter |
| ENST00000513468.5:c.*468T>A | ENSP00000422165.1:n.*468T>A |
| XM_017009439.2:c.611T>A | XP_016864928.1:p.Leu204Ter |