Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024067A>T , CM000663.2:g.17024067A>T | GRCh38 |
| NC_000001.10:g.17350562A>T , CM000663.1:g.17350562A>T | GRCh37 |
| NC_000001.9:g.17223149A>T | NCBI36 |
| NG_012340.1:g.35104T>A , LRG_316:g.35104T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.377T>A | ENSP00000481376.2:p.Leu126His | |
| ENST00000491274.6:c.506T>A | ENSP00000480482.2:p.Leu169His | |
| ENST00000375499.8:c.548T>A MANE Select | ENSP00000364649.3:p.Leu183His | |
| ENST00000375499.7:c.548T>A | ENSP00000364649.3:p.Leu183His | |
| ENST00000485515.5:n.482T>A | ||
| ENST00000491274.5:c.506T>A | ENSP00000480482.1:p.Leu169His | |
| NM_003000.2:c.548T>A , LRG_316t1:c.548T>A | NP_002991.2:p.Leu183His | |
| NM_003000.3:c.548T>A MANE Select | NP_002991.2:p.Leu183His |