Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853763T>A , CM000685.2:g.46853763T>A | GRCh38 |
| NC_000023.10:g.46713198T>A , CM000685.1:g.46713198T>A | GRCh37 |
| NC_000023.9:g.46598142T>A | NCBI36 |
| NG_009107.1:g.21852T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.390T>A MANE Select | NP_008846.2:p.Cys130Ter |
| ENST00000218340.4:c.390T>A MANE Select | ENSP00000218340.3:p.Cys130Ter |
| NM_006915.2:c.390T>A | NP_008846.2:p.Cys130Ter |
| ENST00000218340.3:c.390T>A | ENSP00000218340.3:p.Cys130Ter |