Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571505T>A , CM000663.2:g.154571505T>A | GRCh38 |
| NC_000001.10:g.154543981T>A , CM000663.1:g.154543981T>A | GRCh37 |
| NC_000001.9:g.152810605T>A | NCBI36 |
| NG_008027.1:g.8725T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.682T>A MANE Select | ENSP00000357461.3:p.Phe228Ile | |
| ENST00000636034.1:c.682T>A | ENSP00000489703.1:p.Phe228Ile | |
| ENST00000637900.1:c.688T>A | ENSP00000490474.1:p.Phe230Ile | |
| ENST00000368476.3:c.682T>A | ENSP00000357461.3:p.Phe228Ile | |
| NM_000748.2:c.682T>A | NP_000739.1:p.Phe228Ile | |
| XM_017000180.2:c.172T>A | XP_016855669.1:p.Phe58Ile | |
| XR_001736952.2:n.934T>A | ||
| NM_000748.3:c.682T>A MANE Select | NP_000739.1:p.Phe228Ile |