Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659491C>G , CM000665.2:g.180659491C>G | GRCh38 |
| NC_000003.11:g.180377279C>G , CM000665.1:g.180377279C>G | GRCh37 |
| NC_000003.10:g.181859973C>G | NCBI36 |
| NG_029581.1:g.25005G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.699G>C MANE Select | ENSP00000417960.2:p.Gln233His | |
| ENST00000650641.1:n.778G>C | ||
| ENST00000650889.1:n.871G>C | ||
| ENST00000651046.1:c.699G>C | ENSP00000499175.1:p.Gln233His | |
| ENST00000651818.1:n.841G>C | ||
| ENST00000652024.1:n.790G>C | ||
| ENST00000652408.1:n.836G>C | ||
| ENST00000442201.6:c.699G>C | ENSP00000405708.2:p.Gln233His | |
| ENST00000476379.5:c.699G>C | ENSP00000417960.1:p.Gln233His | |
| NM_181426.1:c.699G>C | NP_852091.1:p.Gln233His | |
| NM_181426.2:c.699G>C MANE Select | NP_852091.1:p.Gln233His |