Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127660T= , CM000663.2:g.160127660T= | GRCh38 |
| NC_000001.10:g.160097450T= , CM000663.1:g.160097450T= | GRCh37 |
| NC_000001.9:g.158364074T= | NCBI36 |
| NG_008014.1:g.16903T= , LRG_6:g.16903T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.857T= MANE Select | NP_000693.1:p.Ile286= |
| ENST00000361216.8:c.857T= MANE Select | ENSP00000354490.3:p.Ile286= |
| NM_000702.3:c.857T= | NP_000693.1:p.Ile286= |
| ENST00000361216.7:c.857T= | ENSP00000354490.3:p.Ile286= |
| ENST00000392233.7:c.857T= | ENSP00000376066.3:p.Ile286= |
| ENST00000472488.5:n.960T= |