Linked Data
ClinVar Variation Id:
218515
dbSNP Id:
rs377304621
ExAC:
9:134393862 G / A
gnomAD v2:
9-134393862-G-A
gnomAD v3:
9-131518475-G-A
gnomAD v4:
9-131518475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518475G>A , CM000671.2:g.131518475G>A | GRCh38 |
| NC_000009.11:g.134393862G>A , CM000671.1:g.134393862G>A | GRCh37 |
| NC_000009.10:g.133383683G>A | NCBI36 |
| NG_008896.1:g.20574G>A | |
| NG_008896.2:g.20574G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1141G>A | ENSP00000343034.7:p.Val381Ile | |
| ENST00000404875.7:n.1843G>A | ||
| ENST00000423007.6:c.1360G>A | ENSP00000404119.2:p.Val454Ile | |
| ENST00000677295.2:c.*1647G>A | ENSP00000504346.2:n.*1647G>A | |
| ENST00000678264.2:c.*1486G>A | ENSP00000503157.2:n.*1486G>A | |
| ENST00000682070.1:n.1768G>A | ||
| ENST00000682535.1:n.75G>A | ||
| ENST00000682539.1:c.241G>A | ||
| ENST00000682813.1:n.1568G>A | ||
| ENST00000683110.1:n.31G>A | ||
| ENST00000683392.1:n.4050G>A | ||
| ENST00000683712.1:n.1708G>A | ||
| ENST00000683900.1:n.3203G>A | ||
| ENST00000684062.1:n.1969G>A | ||
| ENST00000684579.1:n.3149G>A | ||
| ENST00000684679.1:n.530G>A | ||
| ENST00000341012.12:c.1141G>A | ENSP00000343034.7:p.Val381Ile | |
| ENST00000372220.5:c.172G>A | ENSP00000361294.5:p.Val58Ile | |
| ENST00000372228.9:c.1369G>A | ENSP00000361302.3:p.Val457Ile | |
| ENST00000402686.8:c.1303G>A MANE Select | ENSP00000385797.4:p.Val435Ile | |
| ENST00000676640.1:c.1303G>A | ENSP00000503281.1:p.Val435Ile | |
| ENST00000676803.1:c.478G>A | ENSP00000503093.1:p.Val160Ile | |
| ENST00000676835.1:c.*518G>A | ENSP00000502911.1:n.*518G>A | |
| ENST00000677029.1:c.847G>A | ENSP00000502936.1:p.Val283Ile | |
| ENST00000677099.1:c.*1013G>A | ENSP00000504553.1:n.*1013G>A | |
| ENST00000677216.1:c.952G>A | ENSP00000503772.1:p.Val318Ile | |
| ENST00000677221.1:n.328G>A | ||
| ENST00000677295.1:c.*680G>A | ENSP00000504346.1:n.*680G>A | |
| ENST00000677444.1:c.1109G>A | ||
| ENST00000677586.1:n.784G>A | ||
| ENST00000677626.1:c.952G>A | ENSP00000503552.1:p.Val318Ile | |
| ENST00000677677.1:n.1263G>A | ||
| ENST00000677853.1:c.*311G>A | ENSP00000503488.1:n.*311G>A | |
| ENST00000677983.1:n.392G>A | ||
| ENST00000678202.1:n.323G>A | ||
| ENST00000678264.1:c.*680G>A | ENSP00000503157.1:n.*680G>A | |
| ENST00000678303.1:c.1213G>A | ENSP00000503696.1:p.Val405Ile | |
| ENST00000678366.1:c.*1552G>A | ENSP00000504353.1:n.*1552G>A | |
| ENST00000678546.1:c.*1248G>A | ENSP00000503062.1:n.*1248G>A | |
| ENST00000678548.1:c.*1375G>A | ENSP00000503934.1:n.*1375G>A | |
| ENST00000678626.1:n.1000G>A | ||
| ENST00000678733.1:c.384G>A | ||
| ENST00000678739.1:c.*1629G>A | ENSP00000503806.1:n.*1629G>A | |
| ENST00000678795.1:n.390G>A | ||
| ENST00000678833.1:c.*750G>A | ENSP00000503893.1:n.*750G>A | |
| ENST00000678942.1:c.483G>A | ENSP00000504690.1:n.483G>A | |
| ENST00000679023.1:c.1141G>A | ENSP00000503718.1:p.Val381Ile | |
| ENST00000679076.1:c.922G>A | ||
| ENST00000679111.1:c.1303G>A | ENSP00000504257.1:p.Val435Ile | |
| ENST00000679189.1:c.952G>A | ENSP00000503356.1:p.Val318Ile | |
| ENST00000341012.11:c.1141G>A | ENSP00000343034.7:p.Val381Ile | |
| ENST00000372220.4:c.166G>A | ENSP00000361294.4:p.Val56Ile | |
| ENST00000372228.7:c.1369G>A | ENSP00000361302.3:p.Val457Ile | |
| ENST00000402686.7:c.1303G>A | ENSP00000385797.3:p.Val435Ile | |
| ENST00000404875.6:c.952G>A | ENSP00000384531.2:p.Val318Ile | |
| ENST00000423007.5:c.1303G>A | ENSP00000404119.1:p.Val435Ile | |
| ENST00000485278.5:n.1858G>A | ||
| NM_001077365.1:c.1303G>A | NP_001070833.1:p.Val435Ile | |
| NM_001077366.1:c.1141G>A | NP_001070834.1:p.Val381Ile | |
| NM_001136113.1:c.1303G>A | NP_001129585.1:p.Val435Ile | |
| NM_001136114.1:c.952G>A | NP_001129586.1:p.Val318Ile | |
| NM_007171.3:c.1369G>A | NP_009102.3:p.Val457Ile | |
| XM_005272156.1:c.1369G>A | XP_005272213.1:p.Val457Ile | |
| XM_005272158.1:c.1207G>A | XP_005272215.1:p.Val403Ile | |
| XM_005272159.1:c.1018G>A | XP_005272216.1:p.Val340Ile | |
| XM_005272162.1:c.172G>A | XP_005272219.1:p.Val58Ile | |
| XM_006716932.1:c.1018G>A | XP_006716995.1:p.Val340Ile | |
| XM_011518140.1:c.1222G>A | XP_011516442.1:p.Val408Ile | |
| XM_011518141.1:c.1156G>A | XP_011516443.1:p.Val386Ile | |
| XM_011518142.1:c.1060G>A | XP_011516444.1:p.Val354Ile | |
| XM_011518143.1:c.1054G>A | XP_011516445.1:p.Val352Ile | |
| XM_011518144.1:c.1369G>A | XP_011516446.1:p.Val457Ile | |
| XM_011518145.1:c.913G>A | XP_011516447.1:p.Val305Ile | |
| XM_011518146.1:c.1054G>A | XP_011516448.1:p.Val352Ile | |
| XM_011518147.1:c.241G>A | XP_011516449.1:p.Val81Ile | |
| XR_929703.1:n.1545G>A | ||
| NM_001353193.1:c.1369G>A | NP_001340122.1:p.Val457Ile | |
| NM_001353194.1:c.1141G>A | NP_001340123.1:p.Val381Ile | |
| NM_001353195.1:c.952G>A | NP_001340124.1:p.Val318Ile | |
| NM_001353196.1:c.1213G>A | NP_001340125.1:p.Val405Ile | |
| NM_001353197.1:c.1207G>A | NP_001340126.1:p.Val403Ile | |
| NM_001353198.1:c.1207G>A | NP_001340127.1:p.Val403Ile | |
| NM_001353199.1:c.1018G>A | NP_001340128.1:p.Val340Ile | |
| NM_001353200.1:c.847G>A | NP_001340129.1:p.Val283Ile | |
| NR_148391.1:n.1353G>A | ||
| NR_148392.1:n.1571G>A | ||
| NR_148393.1:n.1353G>A | ||
| NR_148394.1:n.1246G>A | ||
| NR_148395.1:n.1505G>A | ||
| NR_148396.1:n.1139G>A | ||
| NR_148397.1:n.1403G>A | ||
| NR_148398.1:n.1358G>A | ||
| NR_148399.1:n.1745G>A | ||
| NR_148400.1:n.1344G>A | ||
| XM_005272162.3:c.172G>A | XP_005272219.1:p.Val58Ile | |
| XM_006716932.2:c.1018G>A | XP_006716995.1:p.Val340Ile | |
| XM_011518140.2:c.1222G>A | XP_011516442.1:p.Val408Ile | |
| XM_011518141.2:c.1156G>A | XP_011516443.1:p.Val386Ile | |
| XM_011518142.2:c.1060G>A | XP_011516444.1:p.Val354Ile | |
| XM_011518143.2:c.1054G>A | XP_011516445.1:p.Val352Ile | |
| XM_011518145.2:c.913G>A | XP_011516447.1:p.Val305Ile | |
| XM_017014205.2:c.172G>A | XP_016869694.1:p.Val58Ile | |
| XM_024447380.1:c.172G>A | XP_024303148.1:p.Val58Ile | |
| XM_024447381.1:c.478G>A | XP_024303149.1:p.Val160Ile | |
| XM_024447382.1:c.172G>A | XP_024303150.1:p.Val58Ile | |
| XR_001746160.2:n.1473G>A | ||
| XR_001746162.2:n.1539G>A | ||
| XR_001746164.1:n.1256G>A | ||
| XR_001746166.2:n.1690G>A | ||
| NM_001077365.2:c.1303G>A MANE Select | NP_001070833.1:p.Val435Ile | |
| NM_001077366.2:c.1141G>A | NP_001070834.1:p.Val381Ile | |
| NM_001136113.2:c.1303G>A | NP_001129585.1:p.Val435Ile | |
| NM_001136114.2:c.952G>A | NP_001129586.1:p.Val318Ile | |
| NM_001353193.2:c.1369G>A | NP_001340122.2:p.Val457Ile | |
| NM_001353194.2:c.1141G>A | NP_001340123.1:p.Val381Ile | |
| NM_001353195.2:c.952G>A | NP_001340124.1:p.Val318Ile | |
| NM_001353196.2:c.1213G>A | NP_001340125.1:p.Val405Ile | |
| NM_001353197.2:c.1207G>A | NP_001340126.2:p.Val403Ile | |
| NM_001353198.2:c.1207G>A | NP_001340127.2:p.Val403Ile | |
| NM_001353199.2:c.1018G>A | NP_001340128.2:p.Val340Ile | |
| NM_001353200.2:c.847G>A | NP_001340129.1:p.Val283Ile | |
| NM_001374689.1:c.1291G>A | NP_001361618.1:p.Val431Ile | |
| NM_001374690.1:c.1303G>A | NP_001361619.1:p.Val435Ile | |
| NM_001374691.1:c.952G>A | NP_001361620.1:p.Val318Ile | |
| NM_001374692.1:c.952G>A | NP_001361621.1:p.Val318Ile | |
| NM_001374693.1:c.952G>A | NP_001361622.1:p.Val318Ile | |
| NM_001374695.1:c.913G>A | NP_001361624.1:p.Val305Ile | |
| NM_007171.4:c.1369G>A | NP_009102.4:p.Val457Ile | |
| NR_148391.2:n.1337G>A | ||
| NR_148392.2:n.1555G>A | ||
| NR_148393.2:n.1337G>A | ||
| NR_148394.2:n.1230G>A | ||
| NR_148395.2:n.1489G>A | ||
| NR_148396.2:n.1123G>A | ||
| NR_148397.2:n.1387G>A | ||
| NR_148398.2:n.1342G>A | ||
| NR_148399.2:n.1729G>A | ||
| NR_148400.2:n.1328G>A |