Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024016C>T , CM000663.2:g.17024016C>T | GRCh38 |
| NC_000001.10:g.17350511C>T , CM000663.1:g.17350511C>T | GRCh37 |
| NC_000001.9:g.17223098C>T | NCBI36 |
| NG_012340.1:g.35155G>A , LRG_316:g.35155G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.599G>A MANE Select | NP_002991.2:p.Trp200Ter |
| ENST00000375499.8:c.599G>A MANE Select | ENSP00000364649.3:p.Trp200Ter |
| NM_003000.2:c.599G>A , LRG_316t1:c.599G>A | NP_002991.2:p.Trp200Ter |
| ENST00000375499.7:c.599G>A | ENSP00000364649.3:p.Trp200Ter |
| ENST00000463045.3:c.428G>A | ENSP00000481376.2:p.Trp143Ter |
| ENST00000485515.5:n.533G>A | |
| ENST00000491274.5:c.557G>A | ENSP00000480482.1:p.Trp186Ter |
| ENST00000491274.6:c.557G>A | ENSP00000480482.2:p.Trp186Ter |