Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78117385A= , CM000685.2:g.78117385A= | GRCh38 |
| NC_000023.10:g.77372882A= , CM000685.1:g.77372882A= | GRCh37 |
| NC_000023.9:g.77259538A= | NCBI36 |
| NG_008862.1:g.18217A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000291.4:c.491A= MANE Select | NP_000282.1:p.Asp164= |
| ENST00000373316.5:c.491A= MANE Select | ENSP00000362413.4:p.Asp164= |
| NM_000291.3:c.491A= | NP_000282.1:p.Asp164= |
| ENST00000373316.4:c.491A= | ENSP00000362413.4:p.Asp164= |
| ENST00000491291.1:n.483A= | |
| ENST00000644362.1:c.407A= | ENSP00000496140.1:p.Asp136= |