Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29955189G>A , CM000685.2:g.29955189G>A | GRCh38 |
| NC_000023.10:g.29973306G>A , CM000685.1:g.29973306G>A | GRCh37 |
| NC_000023.9:g.29883227G>A | NCBI36 |
| NG_008292.1:g.1372626G>A | |
| NG_008292.2:g.1372626G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378993.6:c.1460G>A MANE Select | ENSP00000368278.1:p.Trp487Ter | |
| ENST00000302196.5:c.683G>A | ENSP00000305200.5:p.Trp228Ter | |
| ENST00000378993.5:c.1460G>A | ENSP00000368278.1:p.Trp487Ter | |
| NM_014271.3:c.1460G>A | NP_055086.1:p.Trp487Ter | |
| XM_005274441.1:c.1460G>A | XP_005274498.1:p.Trp487Ter | |
| XM_011545445.1:c.1460G>A | XP_011543747.1:p.Trp487Ter | |
| XM_017029240.1:c.1460G>A | XP_016884729.1:p.Trp487Ter | |
| XM_017029241.1:c.1082G>A | XP_016884730.1:p.Trp361Ter | |
| NM_014271.4:c.1460G>A MANE Select | NP_055086.1:p.Trp487Ter |