Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571710T>A , CM000663.2:g.154571710T>A | GRCh38 |
| NC_000001.10:g.154544186T>A , CM000663.1:g.154544186T>A | GRCh37 |
| NC_000001.9:g.152810810T>A | NCBI36 |
| NG_008027.1:g.8930T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.887T>A MANE Select | ENSP00000357461.3:p.Leu296His | |
| ENST00000636034.1:c.887T>A | ENSP00000489703.1:p.Leu296His | |
| ENST00000637900.1:c.893T>A | ENSP00000490474.1:p.Leu298His | |
| ENST00000368476.3:c.887T>A | ENSP00000357461.3:p.Leu296His | |
| NM_000748.2:c.887T>A | NP_000739.1:p.Leu296His | |
| XM_017000180.2:c.377T>A | XP_016855669.1:p.Leu126His | |
| XR_001736952.2:n.1139T>A | ||
| NM_000748.3:c.887T>A MANE Select | NP_000739.1:p.Leu296His |