Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123196T= , CM000685.2:g.78123196T= | GRCh38 |
| NC_000023.10:g.77378693T= , CM000685.1:g.77378693T= | GRCh37 |
| NC_000023.9:g.77265349T= | NCBI36 |
| NG_008862.1:g.24028T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000291.4:c.758T= MANE Select | NP_000282.1:p.Ile253= |
| ENST00000373316.5:c.758T= MANE Select | ENSP00000362413.4:p.Ile253= |
| NM_000291.3:c.758T= | NP_000282.1:p.Ile253= |
| ENST00000373316.4:c.758T= | ENSP00000362413.4:p.Ile253= |
| ENST00000474281.1:n.165T= | |
| ENST00000644362.1:c.674T= | ENSP00000496140.1:p.Ile225= |