Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196306998G>A , CM000665.2:g.196306998G>A | GRCh38 |
| NC_000003.11:g.196033869G>A , CM000665.1:g.196033869G>A | GRCh37 |
| NC_000003.10:g.197518266G>A | NCBI36 |
| NG_054930.1:g.16297C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152773.5:c.262C>T MANE Select | NP_689986.2:p.Arg88Ter |
| ENST00000325318.10:c.262C>T MANE Select | ENSP00000324323.5:p.Arg88Ter |
| NM_001351628.1:c.262C>T | NP_001338557.1:p.Arg88Ter |
| NM_001351628.2:c.262C>T | NP_001338557.1:p.Arg88Ter |
| NM_152773.4:c.262C>T | NP_689986.2:p.Arg88Ter |
| ENST00000325318.9:c.262C>T | ENSP00000324323.5:p.Arg88Ter |
| ENST00000426563.5:c.*128C>T | ENSP00000415835.1:n.*128C>T |
| ENST00000431391.1:c.262C>T | ENSP00000405181.1:p.Arg88Ter |
| ENST00000446494.1:c.262C>T | ENSP00000410605.1:p.Arg88Ter |