Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709792C>G , CM000681.2:g.6709792C>G | GRCh38 |
| NC_000019.9:g.6709803C>G , CM000681.1:g.6709803C>G | GRCh37 |
| NC_000019.8:g.6660803C>G | NCBI36 |
| NG_009557.1:g.15860G>C , LRG_27:g.15860G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1614G>C | ENSP00000512083.1:p.Gln538His | |
| ENST00000695654.1:c.861G>C | ENSP00000512085.1:p.Gln287His | |
| ENST00000695655.1:c.678G>C | ENSP00000512086.1:n.678G>C | |
| ENST00000695692.1:n.1101G>C | ||
| ENST00000245907.11:c.1737G>C MANE Select | ENSP00000245907.4:p.Gln579His | |
| ENST00000245907.10:c.1737G>C | ENSP00000245907.4:p.Gln579His | |
| ENST00000600763.1:n.370G>C | ||
| NM_000064.3:c.1737G>C | NP_000055.2:p.Gln579His | |
| NM_000064.4:c.1737G>C MANE Select | NP_000055.2:p.Gln579His |