Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78117385A>T , CM000685.2:g.78117385A>T | GRCh38 |
| NC_000023.10:g.77372882A>T , CM000685.1:g.77372882A>T | GRCh37 |
| NC_000023.9:g.77259538A>T | NCBI36 |
| NG_008862.1:g.18217A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.491A>T MANE Select | ENSP00000362413.4:p.Asp164Val | |
| ENST00000644362.1:c.407A>T | ENSP00000496140.1:p.Asp136Val | |
| ENST00000373316.4:c.491A>T | ENSP00000362413.4:p.Asp164Val | |
| ENST00000491291.1:n.483A>T | ||
| NM_000291.3:c.491A>T | NP_000282.1:p.Asp164Val | |
| NM_000291.4:c.491A>T MANE Select | NP_000282.1:p.Asp164Val |