Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123277T>G , CM000685.2:g.78123277T>G | GRCh38 |
| NC_000023.10:g.77378774T>G , CM000685.1:g.77378774T>G | GRCh37 |
| NC_000023.9:g.77265430T>G | NCBI36 |
| NG_008862.1:g.24109T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.839T>G MANE Select | ENSP00000362413.4:p.Ile280Ser | |
| ENST00000644362.1:c.755T>G | ENSP00000496140.1:p.Ile252Ser | |
| ENST00000373316.4:c.839T>G | ENSP00000362413.4:p.Ile280Ser | |
| ENST00000474281.1:n.246T>G | ||
| NM_000291.3:c.839T>G | NP_000282.1:p.Ile280Ser | |
| NM_000291.4:c.839T>G MANE Select | NP_000282.1:p.Ile280Ser |