Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658574G>T , CM000682.2:g.10658574G>T | GRCh38 |
| NC_000020.10:g.10639222G>T , CM000682.1:g.10639222G>T | GRCh37 |
| NC_000020.9:g.10587222G>T | NCBI36 |
| NG_007496.1:g.20473C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.588C>A MANE Select | ENSP00000254958.4:p.Cys196Ter | |
| ENST00000254958.9:c.588C>A | ENSP00000254958.4:p.Cys196Ter | |
| ENST00000423891.6:n.454C>A | ||
| NM_000214.2:c.588C>A | NP_000205.1:p.Cys196Ter | |
| NM_000214.3:c.588C>A MANE Select | NP_000205.1:p.Cys196Ter |