Linked Data
ClinVar Variation Id:
419838
ClinVar RCV Id:
RCV000482490
dbSNP Id:
rs147082653
ExAC:
9:123152060 C / T
gnomAD v2:
9-123152060-C-T
gnomAD v3:
9-120389782-C-T
gnomAD v4:
9-120389782-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120389782C>T , CM000671.2:g.120389782C>T | GRCh38 |
| NC_000009.11:g.123152060C>T , CM000671.1:g.123152060C>T | GRCh37 |
| NC_000009.10:g.122191881C>T | NCBI36 |
| NG_008999.1:g.195378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4894G>A | ENSP00000354065.4:p.Val1632Ile | |
| ENST00000416449.6:c.5488G>A | ENSP00000400395.2:p.Val1830Ile | |
| ENST00000479584.2:n.3831G>A | ||
| ENST00000484546.2:n.3008G>A | ||
| ENST00000684780.1:n.5874G>A | ||
| ENST00000685866.1:c.*3409G>A | ENSP00000509484.1:n.*3409G>A | |
| ENST00000686376.1:c.5427G>A | ENSP00000510021.1:n.5427G>A | |
| ENST00000686842.1:n.9138G>A | ||
| ENST00000687279.1:c.5581G>A | ENSP00000508692.1:p.Val1861Ile | |
| ENST00000687311.1:n.5547G>A | ||
| ENST00000687633.1:c.5485G>A | ENSP00000510289.1:p.Val1829Ile | |
| ENST00000688512.1:c.1192G>A | ENSP00000508546.1:p.Val398Ile | |
| ENST00000688923.1:n.4719G>A | ||
| ENST00000689012.1:n.1972G>A | ||
| ENST00000689688.1:c.*647G>A | ENSP00000510155.1:n.*647G>A | |
| ENST00000690646.1:c.5410G>A | ENSP00000510383.1:p.Val1804Ile | |
| ENST00000690814.1:c.*2760G>A | ENSP00000508792.1:n.*2760G>A | |
| ENST00000691504.1:n.6440G>A | ||
| ENST00000691551.1:c.1753G>A | ||
| ENST00000692155.1:c.5427G>A | ENSP00000510290.1:n.5427G>A | |
| ENST00000692746.1:n.5254G>A | ||
| ENST00000693386.1:c.5429G>A | ENSP00000510003.1:n.5429G>A | |
| ENST00000693433.1:n.9340G>A | ||
| ENST00000693714.1:n.10255G>A | ||
| ENST00000693728.1:c.5488G>A | ENSP00000510580.1:p.Val1830Ile | |
| ENST00000349780.9:c.5584G>A MANE Select | ENSP00000343818.4:p.Val1862Ile | |
| ENST00000349780.8:c.5584G>A | ENSP00000343818.4:p.Val1862Ile | |
| ENST00000360190.8:c.5347G>A | ENSP00000353317.4:p.Val1783Ile | |
| ENST00000360822.7:c.4894G>A | ENSP00000354065.4:p.Val1632Ile | |
| ENST00000416449.5:c.3766G>A | ENSP00000400395.1:p.Val1256Ile | |
| ENST00000425647.1:c.2614G>A | ENSP00000409941.1:p.Val872Ile | |
| ENST00000433194.6:n.680G>A | ||
| ENST00000473282.6:c.*4408G>A | ENSP00000419265.1:n.*4408G>A | |
| ENST00000474262.5:n.411G>A | ||
| ENST00000480112.5:c.*3411G>A | ENSP00000418418.1:n.*3411G>A | |
| ENST00000480467.5:n.796G>A | ||
| ENST00000484546.1:n.1134G>A | ||
| ENST00000495406.1:n.496G>A | ||
| NM_001011649.2:c.5347G>A | NP_001011649.1:p.Val1783Ile | |
| NM_001272039.1:c.4894G>A | NP_001258968.1:p.Val1632Ile | |
| NM_018249.5:c.5584G>A | NP_060719.4:p.Val1862Ile | |
| NR_073554.1:n.5851G>A | ||
| NR_073555.1:n.5774G>A | ||
| NR_073556.1:n.5983G>A | ||
| NR_073557.1:n.5856G>A | ||
| NR_073558.1:n.5853G>A | ||
| XM_006717182.1:c.5488G>A | XP_006717245.1:p.Val1830Ile | |
| XM_006717185.1:c.4897G>A | XP_006717248.1:p.Val1633Ile | |
| XM_011518860.1:c.5581G>A | XP_011517162.1:p.Val1861Ile | |
| XM_011518861.1:c.5581G>A | XP_011517163.1:p.Val1861Ile | |
| XM_017014921.1:c.5485G>A | XP_016870410.1:p.Val1829Ile | |
| XM_017014922.1:c.4750G>A | XP_016870411.1:p.Val1584Ile | |
| XM_017014923.1:c.4660G>A | XP_016870412.1:p.Val1554Ile | |
| XM_017014924.1:c.3142G>A | XP_016870413.1:p.Val1048Ile | |
| NM_018249.6:c.5584G>A MANE Select | NP_060719.4:p.Val1862Ile | |
| NM_001011649.3:c.5347G>A | NP_001011649.1:p.Val1783Ile | |
| NR_073554.2:n.5848G>A | ||
| NR_073555.2:n.5771G>A | ||
| NR_073556.2:n.5980G>A | ||
| NR_073557.2:n.5853G>A | ||
| NR_073558.2:n.5850G>A | ||
| NM_001272039.2:c.4894G>A | NP_001258968.1:p.Val1632Ile |