Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709763T>C , CM000681.2:g.6709763T>C | GRCh38 |
| NC_000019.9:g.6709774T>C , CM000681.1:g.6709774T>C | GRCh37 |
| NC_000019.8:g.6660774T>C | NCBI36 |
| NG_009557.1:g.15889A>G , LRG_27:g.15889A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1643A>G | ENSP00000512083.1:p.His548Arg | |
| ENST00000695654.1:c.890A>G | ENSP00000512085.1:p.His297Arg | |
| ENST00000695655.1:c.707A>G | ENSP00000512086.1:n.707A>G | |
| ENST00000695692.1:n.1130A>G | ||
| ENST00000245907.11:c.1766A>G MANE Select | ENSP00000245907.4:p.His589Arg | |
| ENST00000245907.10:c.1766A>G | ENSP00000245907.4:p.His589Arg | |
| ENST00000600763.1:n.399A>G | ||
| NM_000064.3:c.1766A>G | NP_000055.2:p.His589Arg | |
| NM_000064.4:c.1766A>G MANE Select | NP_000055.2:p.His589Arg |