Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571308T= , CM000663.2:g.154571308T= | GRCh38 |
| NC_000001.10:g.154543784T= , CM000663.1:g.154543784T= | GRCh37 |
| NC_000001.9:g.152810408T= | NCBI36 |
| NG_008027.1:g.8528T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.485T= MANE Select | ENSP00000357461.3:p.Phe162= | |
| ENST00000636034.1:c.485T= | ENSP00000489703.1:p.Phe162= | |
| ENST00000637900.1:c.491T= | ENSP00000490474.1:p.Phe164= | |
| ENST00000368476.3:c.485T= | ENSP00000357461.3:p.Phe162= | |
| NM_000748.2:c.485T= | NP_000739.1:p.Phe162= | |
| XM_017000180.2:c.-9-17T= | XP_016855669.1:n.-9-17T= | |
| XR_001736952.2:n.737T= | ||
| NM_000748.3:c.485T= MANE Select | NP_000739.1:p.Phe162= |