Linked Data
ClinVar Variation Id:
2719484
ClinVar RCV Id:
RCV003508431
dbSNP Id:
rs779288667
ExAC:
10:79796952 C / T
gnomAD v2:
10-79796952-C-T
gnomAD v4:
10-78037194-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78037194C>T , CM000672.2:g.78037194C>T | GRCh38 |
| NC_000010.10:g.79796952C>T , CM000672.1:g.79796952C>T | GRCh37 |
| NC_000010.9:g.79466958C>T | NCBI36 |
| NG_012633.1:g.8435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360830.9:c.280C>T | ENSP00000354074.5:p.His94Tyr | |
| ENST00000372360.9:c.280C>T MANE Select | ENSP00000361435.4:p.His94Tyr | |
| ENST00000440692.6:c.280C>T | ENSP00000414321.1:p.His94Tyr | |
| ENST00000464716.6:c.280C>T | ENSP00000494231.1:p.His94Tyr | |
| ENST00000465692.2:n.291C>T | ||
| ENST00000475468.6:n.690C>T | ||
| ENST00000476545.6:c.280C>T | ENSP00000494169.1:p.His94Tyr | |
| ENST00000478655.6:n.319C>T | ||
| ENST00000485708.7:n.319C>T | ||
| ENST00000613865.5:c.280C>T | ENSP00000478869.2:p.His94Tyr | |
| ENST00000645195.1:c.156C>T | ||
| ENST00000645440.1:c.280C>T | ENSP00000496738.1:p.His94Tyr | |
| ENST00000645698.1:n.308C>T | ||
| ENST00000360830.8:c.280C>T | ENSP00000354074.4:p.His94Tyr | |
| ENST00000372360.7:c.280C>T | ENSP00000361435.3:p.His94Tyr | |
| ENST00000435275.5:c.280C>T | ENSP00000415549.1:p.His94Tyr | |
| ENST00000440692.5:c.280C>T | ENSP00000414321.1:p.His94Tyr | |
| ENST00000464716.5:n.308C>T | ||
| ENST00000465692.1:n.277C>T | ||
| ENST00000476545.5:n.304C>T | ||
| ENST00000478655.5:n.319C>T | ||
| ENST00000482069.5:n.347C>T | ||
| ENST00000485708.6:n.338C>T | ||
| ENST00000613865.4:c.280C>T | ENSP00000478869.1:p.His94Tyr | |
| NM_001026.4:c.280C>T | NP_001017.1:p.His94Tyr | |
| NM_001142282.1:c.280C>T | NP_001135754.1:p.His94Tyr | |
| NM_001142283.1:c.280C>T | NP_001135755.1:p.His94Tyr | |
| NM_001142284.1:c.280C>T | NP_001135756.1:p.His94Tyr | |
| NM_001142285.1:c.280C>T | NP_001135757.1:p.His94Tyr | |
| NM_033022.3:c.280C>T | NP_148982.1:p.His94Tyr | |
| XM_011540034.1:c.433C>T | XP_011538336.1:p.His145Tyr | |
| XM_011540035.1:c.433C>T | XP_011538337.1:p.His145Tyr | |
| XM_011540036.1:c.433C>T | XP_011538338.1:p.His145Tyr | |
| XM_011540037.1:c.433C>T | XP_011538339.1:p.His145Tyr | |
| XM_011540038.1:c.433C>T | XP_011538340.1:p.His145Tyr | |
| NM_001142285.2:c.280C>T | NP_001135757.1:p.His94Tyr | |
| NM_033022.4:c.280C>T MANE Select | NP_148982.1:p.His94Tyr | |
| NM_001026.5:c.280C>T | NP_001017.1:p.His94Tyr | |
| NM_001142282.2:c.280C>T | NP_001135754.1:p.His94Tyr | |
| NM_001142283.2:c.280C>T | NP_001135755.1:p.His94Tyr | |
| NM_001142284.2:c.280C>T | NP_001135756.1:p.His94Tyr |