Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123325C= , CM000685.2:g.78123325C= | GRCh38 |
| NC_000023.10:g.77378822C= , CM000685.1:g.77378822C= | GRCh37 |
| NC_000023.9:g.77265478C= | NCBI36 |
| NG_008862.1:g.24157C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.887C= MANE Select | ENSP00000362413.4:p.Ala296= | |
| ENST00000644362.1:c.803C= | ENSP00000496140.1:p.Ala268= | |
| ENST00000373316.4:c.887C= | ENSP00000362413.4:p.Ala296= | |
| ENST00000474281.1:n.294C= | ||
| NM_000291.3:c.887C= | NP_000282.1:p.Ala296= | |
| NM_000291.4:c.887C= MANE Select | NP_000282.1:p.Ala296= |