Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713219A>G , CM000681.2:g.6713219A>G | GRCh38 |
| NC_000019.9:g.6713230A>G , CM000681.1:g.6713230A>G | GRCh37 |
| NC_000019.8:g.6664230A>G | NCBI36 |
| NG_009557.1:g.12433T>C , LRG_27:g.12433T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.850T>C | ENSP00000512083.1:p.Tyr284His | |
| ENST00000695654.1:c.97T>C | ENSP00000512085.1:p.Tyr33His | |
| ENST00000695692.1:n.297T>C | ||
| ENST00000245907.11:c.973T>C MANE Select | ENSP00000245907.4:p.Tyr325His | |
| ENST00000245907.10:c.973T>C | ENSP00000245907.4:p.Tyr325His | |
| ENST00000594270.5:n.97T>C | ||
| ENST00000595577.1:n.477T>C | ||
| ENST00000597442.5:n.223T>C | ||
| NM_000064.3:c.973T>C | NP_000055.2:p.Tyr325His | |
| NM_000064.4:c.973T>C MANE Select | NP_000055.2:p.Tyr325His |