Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718933G>A , CM000667.2:g.74718933G>A | GRCh38 |
| NC_000005.9:g.74014758G>A , CM000667.1:g.74014758G>A | GRCh37 |
| NC_000005.8:g.74050514G>A | NCBI36 |
| NG_009770.1:g.38790G>A | |
| NG_009770.2:g.83911G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1379G>A MANE Select | NP_000512.2:p.Trp460Ter |
| ENST00000261416.12:c.1379G>A MANE Select | ENSP00000261416.7:p.Trp460Ter |
| NM_000521.3:c.1379G>A | NP_000512.1:p.Trp460Ter |
| NM_001292004.1:c.704G>A | NP_001278933.1:p.Trp235Ter |
| NM_001292004.2:c.704G>A | NP_001278933.1:p.Trp235Ter |
| ENST00000261416.11:c.1379G>A | ENSP00000261416.7:p.Trp460Ter |
| ENST00000503312.5:c.255G>A | |
| ENST00000504459.5:n.576G>A | |
| ENST00000511181.5:c.704G>A | ENSP00000426285.1:p.Trp235Ter |
| ENST00000513336.5:c.315G>A | |
| ENST00000513539.1:n.98G>A |