Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71096977G>A , CM000685.2:g.71096977G>A | GRCh38 |
| NC_000023.10:g.70316827G>A , CM000685.1:g.70316827G>A | GRCh37 |
| NC_000023.9:g.70233552G>A | NCBI36 |
| NG_016418.1:g.5829G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005938.4:c.449G>A MANE Select | NP_005929.2:p.Trp150Ter |
| ENST00000374259.8:c.449G>A MANE Select | ENSP00000363377.3:p.Trp150Ter |
| NM_001170931.1:c.284G>A | NP_001164402.1:p.Trp95Ter |
| NM_001170931.2:c.284G>A | NP_001164402.1:p.Trp95Ter |
| NM_005938.3:c.449G>A | NP_005929.2:p.Trp150Ter |
| ENST00000341558.3:c.284G>A | ENSP00000342209.3:p.Trp95Ter |
| ENST00000374259.7:c.449G>A | ENSP00000363377.3:p.Trp150Ter |
| ENST00000466874.1:n.564G>A |