Linked Data
ClinVar Variation Id:
2153856
ClinVar RCV Id:
RCV003081489
dbSNP Id:
rs780816118
ExAC:
2:127808070 G / C
gnomAD v2:
2-127808070-G-C
gnomAD v3:
2-127050494-G-C
gnomAD v4:
2-127050494-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127050494G>C , CM000664.2:g.127050494G>C | GRCh38 |
| NC_000002.11:g.127808070G>C , CM000664.1:g.127808070G>C | GRCh37 |
| NC_000002.10:g.127524540G>C | NCBI36 |
| NG_012042.1:g.61795C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352848.8:c.1184C>G | ENSP00000315284.4:p.Thr395Ser | |
| ENST00000316724.10:c.1601C>G MANE Select | ENSP00000316779.5:p.Thr534Ser | |
| ENST00000259238.8:c.1313C>G | ENSP00000259238.4:p.Thr438Ser | |
| ENST00000316724.9:c.1601C>G | ENSP00000316779.5:p.Thr534Ser | |
| ENST00000346226.7:c.1376C>G | ENSP00000315411.3:p.Thr459Ser | |
| ENST00000348750.8:c.1049C>G | ENSP00000259237.5:p.Thr350Ser | |
| ENST00000351659.7:c.1340C>G | ENSP00000315388.3:p.Thr447Ser | |
| ENST00000352848.7:c.1184C>G | ENSP00000315284.4:p.Thr395Ser | |
| ENST00000357970.7:c.1472C>G | ENSP00000350654.3:p.Thr491Ser | |
| ENST00000376113.6:c.1094C>G | ENSP00000365281.2:p.Thr365Ser | |
| ENST00000393040.7:c.1268C>G | ENSP00000376760.3:p.Thr423Ser | |
| ENST00000393041.7:c.1247C>G | ENSP00000376761.3:p.Thr416Ser | |
| ENST00000409400.1:c.1139C>G | ENSP00000386797.1:p.Thr380Ser | |
| ENST00000462958.5:n.4467C>G | ||
| ENST00000466111.5:n.775C>G | ||
| ENST00000484253.1:n.786C>G | ||
| NM_004305.3:c.1184C>G | NP_004296.1:p.Thr395Ser | |
| NM_139343.2:c.1601C>G | NP_647593.1:p.Thr534Ser | |
| NM_139344.2:c.1472C>G | NP_647594.1:p.Thr491Ser | |
| NM_139345.2:c.1340C>G | NP_647595.1:p.Thr447Ser | |
| NM_139346.2:c.1313C>G | NP_647596.1:p.Thr438Ser | |
| NM_139347.2:c.1376C>G | NP_647597.1:p.Thr459Ser | |
| NM_139348.2:c.1268C>G | NP_647598.1:p.Thr423Ser | |
| NM_139349.2:c.1247C>G | NP_647599.1:p.Thr416Ser | |
| NM_139350.2:c.1139C>G | NP_647600.1:p.Thr380Ser | |
| NM_139351.2:c.1049C>G | NP_647601.1:p.Thr350Ser | |
| XM_005263642.2:c.1646C>G | XP_005263699.1:p.Thr549Ser | |
| XM_005263643.2:c.1553C>G | XP_005263700.1:p.Thr518Ser | |
| XM_005263644.2:c.1508C>G | XP_005263701.1:p.Thr503Ser | |
| XM_005263645.1:c.1481C>G | XP_005263702.1:p.Thr494Ser | |
| XM_005263646.2:c.1232C>G | XP_005263703.1:p.Thr411Ser | |
| XM_005263647.2:c.1094C>G | XP_005263704.1:p.Thr365Ser | |
| XM_005263648.1:c.977C>G | XP_005263705.1:p.Thr326Ser | |
| XM_006712425.2:c.1514C>G | XP_006712488.1:p.Thr505Ser | |
| XM_006712426.2:c.1514C>G | XP_006712489.1:p.Thr505Ser | |
| XM_006712427.1:c.1436C>G | XP_006712490.1:p.Thr479Ser | |
| XM_006712428.2:c.1406C>G | XP_006712491.1:p.Thr469Ser | |
| XM_006712429.2:c.1385C>G | XP_006712492.1:p.Thr462Ser | |
| XM_006712430.2:c.1361C>G | XP_006712493.1:p.Thr454Ser | |
| XM_006712431.2:c.1316C>G | XP_006712494.1:p.Thr439Ser | |
| XM_006712432.2:c.1277C>G | XP_006712495.1:p.Thr426Ser | |
| XM_006712433.2:c.1187C>G | XP_006712496.1:p.Thr396Ser | |
| XM_006712434.2:c.1142C>G | XP_006712497.1:p.Thr381Ser | |
| XM_011510975.1:c.1565C>G | XP_011509277.1:p.Thr522Ser | |
| NM_001320632.1:c.1094C>G | NP_001307561.1:p.Thr365Ser | |
| NM_001320633.1:c.1232C>G | NP_001307562.1:p.Thr411Ser | |
| NM_001320634.1:c.977C>G | NP_001307563.1:p.Thr326Ser | |
| NM_001320640.1:c.1361C>G | NP_001307569.1:p.Thr454Ser | |
| NM_001320641.1:c.1508C>G | NP_001307570.1:p.Thr503Ser | |
| NM_001320642.1:c.1520C>G | NP_001307571.1:p.Thr507Ser | |
| XM_005263642.4:c.1646C>G | XP_005263699.1:p.Thr549Ser | |
| XM_005263643.4:c.1553C>G | XP_005263700.1:p.Thr518Ser | |
| XM_005263645.2:c.1481C>G | XP_005263702.1:p.Thr494Ser | |
| XM_006712425.4:c.1514C>G | XP_006712488.1:p.Thr505Ser | |
| XM_006712426.4:c.1514C>G | XP_006712489.1:p.Thr505Ser | |
| XM_006712427.2:c.1436C>G | XP_006712490.1:p.Thr479Ser | |
| XM_006712428.4:c.1406C>G | XP_006712491.1:p.Thr469Ser | |
| XM_006712429.4:c.1385C>G | XP_006712492.1:p.Thr462Ser | |
| XM_006712431.4:c.1316C>G | XP_006712494.1:p.Thr439Ser | |
| XM_006712432.4:c.1277C>G | XP_006712495.1:p.Thr426Ser | |
| XM_006712433.4:c.1187C>G | XP_006712496.1:p.Thr396Ser | |
| XM_006712434.4:c.1142C>G | XP_006712497.1:p.Thr381Ser | |
| XM_011510975.3:c.1565C>G | XP_011509277.1:p.Thr522Ser | |
| XM_017003819.1:c.1574C>G | XP_016859308.1:p.Thr525Ser | |
| XM_017003820.2:c.1376C>G | XP_016859309.1:p.Thr459Ser | |
| XM_017003821.2:c.1271C>G | XP_016859310.1:p.Thr424Ser | |
| XM_017003822.2:c.1178C>G | XP_016859311.1:p.Thr393Ser | |
| XM_017003823.1:c.1175C>G | XP_016859312.1:p.Thr392Ser | |
| XM_017003824.1:c.1106C>G | XP_016859313.1:p.Thr369Ser | |
| XM_017003825.1:c.1070C>G | XP_016859314.1:p.Thr357Ser | |
| XM_017003826.1:c.1067C>G | XP_016859315.1:p.Thr356Ser | |
| XM_017003827.2:c.1048-1861C>G | XP_016859316.1:n.1048-1861C>G | |
| XM_017003828.2:c.1003-1861C>G | XP_016859317.1:n.1003-1861C>G | |
| NM_139343.3:c.1601C>G MANE Select | NP_647593.1:p.Thr534Ser | |
| NM_001320632.2:c.1094C>G | NP_001307561.1:p.Thr365Ser | |
| NM_001320633.2:c.1232C>G | NP_001307562.1:p.Thr411Ser | |
| NM_001320640.2:c.1361C>G | NP_001307569.1:p.Thr454Ser | |
| NM_001320641.2:c.1508C>G | NP_001307570.1:p.Thr503Ser | |
| NM_004305.4:c.1184C>G | NP_004296.1:p.Thr395Ser | |
| NM_139344.3:c.1472C>G | NP_647594.1:p.Thr491Ser | |
| NM_139345.3:c.1340C>G | NP_647595.1:p.Thr447Ser | |
| NM_139346.3:c.1313C>G | NP_647596.1:p.Thr438Ser | |
| NM_139347.3:c.1376C>G | NP_647597.1:p.Thr459Ser | |
| NM_139348.3:c.1268C>G | NP_647598.1:p.Thr423Ser | |
| NM_139349.3:c.1247C>G | NP_647599.1:p.Thr416Ser | |
| NM_139350.3:c.1139C>G | NP_647600.1:p.Thr380Ser | |
| NM_139351.3:c.1049C>G | NP_647601.1:p.Thr350Ser |