Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78124997G>A , CM000685.2:g.78124997G>A | GRCh38 |
| NC_000023.10:g.77380494G>A , CM000685.1:g.77380494G>A | GRCh37 |
| NC_000023.9:g.77267150G>A | NCBI36 |
| NG_008862.1:g.25829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.1060G>A MANE Select | ENSP00000362413.4:p.Ala354Thr | |
| ENST00000644362.1:c.976G>A | ENSP00000496140.1:p.Ala326Thr | |
| ENST00000373316.4:c.1060G>A | ENSP00000362413.4:p.Ala354Thr | |
| ENST00000476531.1:n.54G>A | ||
| NM_000291.3:c.1060G>A | NP_000282.1:p.Ala354Thr | |
| NM_000291.4:c.1060G>A MANE Select | NP_000282.1:p.Ala354Thr |