Linked Data
ClinVar Variation Id:
445317
ClinVar RCV Id:
RCV000513862
dbSNP Id:
rs116911386
ExAC:
17:1939892 C / T
gnomAD v2:
17-1939892-C-T
gnomAD v3:
17-2036598-C-T
gnomAD v4:
17-2036598-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2036598C>T , CM000679.2:g.2036598C>T | GRCh38 |
| NC_000017.10:g.1939892C>T , CM000679.1:g.1939892C>T | GRCh37 |
| NC_000017.9:g.1886642C>T | NCBI36 |
| NG_051946.1:g.11487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263083.12:c.470C>T MANE Select | ENSP00000263083.7:p.Thr157Ile | |
| ENST00000570477.6:c.245C>T | ENSP00000458726.1:p.Thr82Ile | |
| ENST00000571418.7:c.470C>T | ENSP00000458838.2:p.Thr157Ile | |
| ENST00000575667.6:c.359C>T | ||
| ENST00000674200.2:c.485C>T | ENSP00000501368.1:p.Thr162Ile | |
| ENST00000263083.10:c.485C>T | ENSP00000263083.6:p.Thr162Ile | |
| ENST00000570477.5:c.245C>T | ENSP00000458726.1:p.Thr82Ile | |
| ENST00000570833.5:c.315C>T | ENSP00000467936.1:n.315C>T | |
| ENST00000571418.5:c.481C>T | ||
| ENST00000572819.6:n.910C>T | ||
| ENST00000575667.5:c.359C>T | ||
| ENST00000576129.5:n.454C>T | ||
| ENST00000576891.2:n.327C>T | ||
| NM_001383.3:c.485C>T | NP_001374.3:p.Thr162Ile | |
| NM_001346574.1:c.485C>T | NP_001333503.1:p.Thr162Ile | |
| NM_001346575.1:c.485C>T | NP_001333504.1:p.Thr162Ile | |
| NM_001346576.1:c.65C>T | NP_001333505.1:p.Thr22Ile | |
| NM_001383.4:c.485C>T | NP_001374.3:p.Thr162Ile | |
| NR_144474.1:n.528C>T | ||
| NR_144475.1:n.528C>T | ||
| NR_144476.1:n.528C>T | ||
| NM_001383.5:c.470C>T | NP_001374.4:p.Thr157Ile | |
| NM_001346576.2:c.65C>T | NP_001333505.1:p.Thr22Ile | |
| NM_001383.6:c.470C>T MANE Select | NP_001374.4:p.Thr157Ile | |
| NR_144474.2:n.487C>T | ||
| NR_144475.2:n.487C>T | ||
| NR_144476.2:n.487C>T |