Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80787628C>A , CM000667.2:g.80787628C>A | GRCh38 |
| NC_000005.9:g.80083447C>A , CM000667.1:g.80083447C>A | GRCh37 |
| NC_000005.8:g.80119203C>A | NCBI36 |
| NG_016607.1:g.138154C>A | |
| NG_016607.2:g.138154C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.2499C>A MANE Select | NP_002430.3:p.Cys833Ter |
| ENST00000265081.7:c.2499C>A MANE Select | ENSP00000265081.6:p.Cys833Ter |
| NM_002439.4:c.2499C>A | NP_002430.3:p.Cys833Ter |
| ENST00000265081.6:c.2499C>A | ENSP00000265081.6:p.Cys833Ter |
| ENST00000658259.1:c.2331C>A | ENSP00000499617.1:p.Cys777Ter |
| ENST00000667069.1:c.2304C>A | ENSP00000499502.1:p.Cys768Ter |
| ENST00000670357.1:c.2499C>A | ENSP00000499791.1:p.Cys833Ter |