Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107950257G>A , CM000666.2:g.107950257G>A | GRCh38 |
| NC_000004.11:g.108871413G>A , CM000666.1:g.108871413G>A | GRCh37 |
| NC_000004.10:g.109090862G>A | NCBI36 |
| NG_007961.1:g.23697G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_183075.3:c.1469G>A MANE Select | NP_898898.1:p.Cys490Tyr |
| ENST00000332884.11:c.1469G>A MANE Select | ENSP00000333212.6:p.Cys490Tyr |
| NM_183075.2:c.1469G>A | NP_898898.1:p.Cys490Tyr |
| ENST00000332884.10:c.1469G>A | ENSP00000333212.6:p.Cys490Tyr |
| ENST00000508453.1:c.842G>A | ENSP00000423667.1:p.Cys281Tyr |
| XM_005262717.2:c.1523G>A | XP_005262774.1:p.Cys508Tyr |
| XM_005262720.2:c.833G>A | XP_005262777.1:p.Cys278Tyr |
| XR_001741783.1:n.155+39311C>T | |
| XR_001741784.1:n.530+28463C>T |