Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123292A= , CM000685.2:g.78123292A= | GRCh38 |
| NC_000023.10:g.77378789A= , CM000685.1:g.77378789A= | GRCh37 |
| NC_000023.9:g.77265445A= | NCBI36 |
| NG_008862.1:g.24124A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000291.4:c.854A= MANE Select | NP_000282.1:p.Asp285= |
| ENST00000373316.5:c.854A= MANE Select | ENSP00000362413.4:p.Asp285= |
| NM_000291.3:c.854A= | NP_000282.1:p.Asp285= |
| ENST00000373316.4:c.854A= | ENSP00000362413.4:p.Asp285= |
| ENST00000474281.1:n.261A= | |
| ENST00000644362.1:c.770A= | ENSP00000496140.1:p.Asp257= |