Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128349391C>A , CM000667.2:g.128349391C>A | GRCh38 |
| NC_000005.9:g.127685083C>A , CM000667.1:g.127685083C>A | GRCh37 |
| NC_000005.8:g.127712982C>A | NCBI36 |
| NG_008750.1:g.193653G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.2945G>T MANE Select | NP_001990.2:p.Cys982Phe |
| ENST00000262464.9:c.2945G>T MANE Select | ENSP00000262464.4:p.Cys982Phe |
| NM_001999.3:c.2945G>T | NP_001990.2:p.Cys982Phe |
| ENST00000262464.8:c.2945G>T | ENSP00000262464.4:p.Cys982Phe |
| ENST00000508053.5:c.2945G>T | ENSP00000424571.1:p.Cys982Phe |
| ENST00000508989.5:c.2846G>T | ENSP00000425596.1:p.Cys949Phe |
| ENST00000619499.4:c.2942G>T | ENSP00000482132.1:p.Cys981Phe |
| XM_017009228.2:c.2792G>T | XP_016864717.1:p.Cys931Phe |