Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44942392T>A , CM000664.2:g.44942392T>A | GRCh38 |
| NC_000002.11:g.45169531T>A , CM000664.1:g.45169531T>A | GRCh37 |
| NC_000002.10:g.45023035T>A | NCBI36 |
| NG_016222.1:g.5495T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260653.5:c.288T>A MANE Select | ENSP00000260653.3:p.Cys96Ter | |
| ENST00000260653.4:c.288T>A | ENSP00000260653.3:p.Cys96Ter | |
| NM_005413.3:c.288T>A | NP_005404.1:p.Cys96Ter | |
| XM_011533042.1:c.288T>A | XP_011531344.1:p.Cys96Ter | |
| NM_005413.4:c.288T>A MANE Select | NP_005404.1:p.Cys96Ter |