Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216046489A>T , CM000663.2:g.216046489A>T | GRCh38 |
| NC_000001.10:g.216219831A>T , CM000663.1:g.216219831A>T | GRCh37 |
| NC_000001.9:g.214286454A>T | NCBI36 |
| NG_009497.1:g.381908T>A | |
| NG_009497.2:g.381960T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.6267T>A MANE Select | NP_996816.3:p.Cys2089Ter |
| ENST00000307340.8:c.6267T>A MANE Select | ENSP00000305941.3:p.Cys2089Ter |
| NM_206933.2:c.6267T>A | NP_996816.2:p.Cys2089Ter |
| NM_206933.3:c.6267T>A | NP_996816.2:p.Cys2089Ter |
| ENST00000307340.7:c.6267T>A | ENSP00000305941.3:p.Cys2089Ter |
| ENST00000674083.1:c.6267T>A | ENSP00000501296.1:p.Cys2089Ter |