Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37710548T>A , CM000684.2:g.37710548T>A | GRCh38 |
| NC_000022.10:g.38106555T>A , CM000684.1:g.38106555T>A | GRCh37 |
| NC_000022.9:g.36436501T>A | NCBI36 |
| NG_012857.1:g.18561T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.236T>A MANE Select | ENSP00000496394.1:p.Leu79His | |
| ENST00000344404.10:c.236T>A | ENSP00000340312.6:p.Leu79His | |
| ENST00000406386.7:c.236T>A | ENSP00000384312.3:p.Leu79His | |
| ENST00000455236.4:c.1193T>A | ENSP00000477208.1:n.1193T>A | |
| ENST00000492485.5:n.372T>A | ||
| NM_001039141.2:c.236T>A | NP_001034230.1:p.Leu79His | |
| NM_001039141.3:c.236T>A MANE Select | NP_001034230.1:p.Leu79His |