Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571436A= , CM000663.2:g.154571436A= | GRCh38 |
| NC_000001.10:g.154543912A= , CM000663.1:g.154543912A= | GRCh37 |
| NC_000001.9:g.152810536A= | NCBI36 |
| NG_008027.1:g.8656A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.613A= MANE Select | ENSP00000357461.3:p.Ile205= | |
| ENST00000636034.1:c.613A= | ENSP00000489703.1:p.Ile205= | |
| ENST00000637900.1:c.619A= | ENSP00000490474.1:p.Ile207= | |
| ENST00000368476.3:c.613A= | ENSP00000357461.3:p.Ile205= | |
| NM_000748.2:c.613A= | NP_000739.1:p.Ile205= | |
| XM_017000180.2:c.103A= | XP_016855669.1:p.Ile35= | |
| XR_001736952.2:n.865A= | ||
| NM_000748.3:c.613A= MANE Select | NP_000739.1:p.Ile205= |