Linked Data
ClinVar Variation Id:
2145486
ClinVar RCV Id:
RCV003071465
dbSNP Id:
rs142772982
ExAC:
1:227083236 C / T
gnomAD v2:
1-227083236-C-T
gnomAD v3:
1-226895535-C-T
gnomAD v4:
1-226895535-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226895535C>T , CM000663.2:g.226895535C>T | GRCh38 |
| NC_000001.10:g.227083236C>T , CM000663.1:g.227083236C>T | GRCh37 |
| NC_000001.9:g.225149859C>T | NCBI36 |
| NG_007381.1:g.29964C>T | |
| NG_012825.2:g.3000C>T | |
| NG_007381.2:g.30352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.1303C>T | ENSP00000355741.2:p.Arg435Trp | |
| ENST00000366782.6:c.1303C>T | ENSP00000355746.2:p.Arg435Trp | |
| ENST00000366783.8:c.1303C>T MANE Select | ENSP00000355747.3:p.Arg435Trp | |
| ENST00000471728.2:n.1941C>T | ||
| ENST00000524196.6:c.1303C>T | ENSP00000429036.2:p.Arg435Trp | |
| ENST00000626989.3:c.1303C>T | ENSP00000486498.2:p.Arg435Trp | |
| ENST00000676467.1:c.*1130C>T | ENSP00000504294.1:n.*1130C>T | |
| ENST00000676747.1:c.1188+1410C>T | ENSP00000503244.1:n.1188+1410C>T | |
| ENST00000676884.1:c.1303C>T | ENSP00000503200.1:p.Arg435Trp | |
| ENST00000676888.1:c.*644C>T | ENSP00000504483.1:n.*644C>T | |
| ENST00000676907.1:c.*882C>T | ENSP00000504410.1:n.*882C>T | |
| ENST00000676945.1:c.1191+1410C>T | ENSP00000504433.1:n.1191+1410C>T | |
| ENST00000677065.1:n.1864C>T | ||
| ENST00000677414.1:c.1303C>T | ENSP00000503116.1:p.Arg435Trp | |
| ENST00000677529.1:n.3033C>T | ||
| ENST00000677596.1:c.*1525C>T | ENSP00000503618.1:n.*1525C>T | |
| ENST00000677599.1:c.1191+1410C>T | ENSP00000503673.1:n.1191+1410C>T | |
| ENST00000677748.1:n.3558C>T | ||
| ENST00000677880.1:c.868C>T | ENSP00000503121.1:p.Arg290Trp | |
| ENST00000678021.1:c.*926C>T | ENSP00000504674.1:n.*926C>T | |
| ENST00000678233.1:c.1303C>T | ENSP00000504728.1:p.Arg435Trp | |
| ENST00000678320.1:c.1204C>T | ENSP00000503680.1:p.Arg402Trp | |
| ENST00000678655.1:c.1092+1410C>T | ENSP00000504230.1:n.1092+1410C>T | |
| ENST00000678706.1:c.*680C>T | ENSP00000503659.1:n.*680C>T | |
| ENST00000678776.1:c.*1440C>T | ENSP00000504624.1:n.*1440C>T | |
| ENST00000678784.1:c.1073-2185C>T | ENSP00000504652.1:n.1073-2185C>T | |
| ENST00000678820.1:c.1089+1410C>T | ENSP00000504138.1:n.1089+1410C>T | |
| ENST00000678835.1:c.*757-2185C>T | ENSP00000504343.1:n.*757-2185C>T | |
| ENST00000679088.1:c.1303C>T | ENSP00000504727.1:p.Arg435Trp | |
| ENST00000679098.1:c.1303C>T | ENSP00000504303.1:p.Arg435Trp | |
| ENST00000366782.5:c.1402C>T | ENSP00000355746.1:p.Arg468Trp | |
| ENST00000366783.7:c.1303C>T | ENSP00000355747.3:p.Arg435Trp | |
| ENST00000422240.6:c.1300C>T | ENSP00000403737.2:p.Arg434Trp | |
| ENST00000471728.1:n.561C>T | ||
| ENST00000472139.2:c.871C>T | ENSP00000427806.1:p.Arg291Trp | |
| ENST00000626989.2:c.1402C>T | ENSP00000486498.1:p.Arg468Trp | |
| NM_000447.2:c.1303C>T | NP_000438.2:p.Arg435Trp | |
| NM_012486.2:c.1300C>T | NP_036618.2:p.Arg434Trp | |
| XM_005273199.2:c.1303C>T | XP_005273256.1:p.Arg435Trp | |
| XM_011544236.1:c.871C>T | XP_011542538.1:p.Arg291Trp | |
| XR_949149.1:n.2037C>T | ||
| XM_005273199.4:c.1303C>T | XP_005273256.1:p.Arg435Trp | |
| XM_017001835.1:c.1303C>T | XP_016857324.1:p.Arg435Trp | |
| XM_017001836.1:c.1300C>T | XP_016857325.1:p.Arg434Trp | |
| XR_001737316.2:n.1478-2185C>T | ||
| XR_001737317.2:n.1478-2185C>T | ||
| XR_001737318.2:n.2018C>T | ||
| XR_001737319.1:n.2361C>T | ||
| XR_001737320.1:n.2358C>T | ||
| XR_001737321.1:n.1853C>T | ||
| XR_949149.2:n.2015C>T | ||
| XR_949150.3:n.2234C>T | ||
| NM_000447.3:c.1303C>T MANE Select | NP_000438.2:p.Arg435Trp | |
| NM_012486.3:c.1300C>T | NP_036618.2:p.Arg434Trp |