Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722089G>T , CM000668.2:g.42722089G>T | GRCh38 |
| NC_000006.11:g.42689827G>T , CM000668.1:g.42689827G>T | GRCh37 |
| NC_000006.10:g.42797805G>T | NCBI36 |
| NG_009176.1:g.5532C>A | |
| NG_009176.2:g.5532C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000322.5:c.246C>A MANE Select | NP_000313.2:p.Cys82Ter |
| ENST00000230381.7:c.246C>A MANE Select | ENSP00000230381.5:p.Cys82Ter |
| NM_000322.4:c.246C>A | NP_000313.2:p.Cys82Ter |
| ENST00000230381.6:c.246C>A | ENSP00000230381.5:p.Cys82Ter |
| XR_427834.2:n.901C>A | |
| XR_427834.4:n.951C>A | |
| XR_926295.1:n.901C>A | |
| XR_926295.3:n.951C>A |