Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564626A>G , CM000684.2:g.36564626A>G | GRCh38 |
| NC_000022.10:g.36960673A>G , CM000684.1:g.36960673A>G | GRCh37 |
| NC_000022.9:g.35290619A>G | NCBI36 |
| NG_031861.1:g.143018T>C | |
| NG_031861.2:g.143233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.697T>C MANE Select | ENSP00000300105.6:p.Tyr233His | |
| ENST00000300105.6:c.697T>C | ENSP00000300105.6:p.Tyr233His | |
| NM_006078.3:c.697T>C | NP_006069.1:p.Tyr233His | |
| NM_006078.4:c.697T>C | NP_006069.1:p.Tyr233His | |
| XM_017028531.2:c.439T>C | XP_016884020.1:p.Tyr147His | |
| NM_001379051.1:c.628T>C | NP_001365980.1:p.Tyr210His | |
| NM_006078.5:c.697T>C MANE Select | NP_006069.1:p.Tyr233His | |
| NR_166440.1:n.2063T>C |