Linked Data
ClinVar Variation Id:
430024
dbSNP Id:
rs1131691741
gnomAD v3:
13-51937305-T-G
gnomAD v4:
13-51937305-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937305T>G , CM000675.2:g.51937305T>G | GRCh38 |
| NC_000013.10:g.52511441T>G , CM000675.1:g.52511441T>G | GRCh37 |
| NC_000013.9:g.51409442T>G | NCBI36 |
| NG_008806.1:g.79190A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1642A>C | ENSP00000489512.2:n.*1642A>C | |
| ENST00000673864.2:c.*2736A>C | ENSP00000501045.2:n.*2736A>C | |
| ENST00000674147.2:c.3371A>C | ENSP00000500964.2:p.Tyr1124Ser | |
| ENST00000242839.10:c.3992A>C MANE Select | ENSP00000242839.5:p.Tyr1331Ser | |
| ENST00000344297.9:c.3371A>C | ENSP00000342559.5:p.Tyr1124Ser | |
| ENST00000400366.6:c.3659A>C | ENSP00000383217.3:p.Tyr1220Ser | |
| ENST00000448424.7:c.3740A>C | ENSP00000416738.3:p.Tyr1247Ser | |
| ENST00000673696.1:n.1315A>C | ||
| ENST00000673772.1:c.3758A>C | ENSP00000501168.1:p.Tyr1253Ser | |
| ENST00000673867.1:n.4131A>C | ||
| ENST00000673923.1:n.858A>C | ||
| ENST00000674147.1:c.2927A>C | ENSP00000500964.1:p.Tyr976Ser | |
| ENST00000242839.8:c.3992A>C | ENSP00000242839.4:p.Tyr1331Ser | |
| ENST00000344297.8:c.3371A>C | ENSP00000342559.5:p.Tyr1124Ser | |
| ENST00000400366.5:c.3659A>C | ENSP00000383217.3:p.Tyr1220Ser | |
| ENST00000400370.8:c.2702A>C | ENSP00000383221.3:p.Tyr901Ser | |
| ENST00000418097.7:c.3797A>C | ENSP00000393343.2:p.Tyr1266Ser | |
| ENST00000448424.6:c.3758A>C | ENSP00000416738.2:p.Tyr1253Ser | |
| ENST00000634296.1:c.1770A>C | ||
| ENST00000634308.1:c.*1093A>C | ENSP00000489234.1:n.*1093A>C | |
| ENST00000634620.1:n.4736A>C | ||
| ENST00000634810.1:n.3337A>C | ||
| ENST00000634844.1:c.3848A>C | ENSP00000489398.1:p.Tyr1283Ser | |
| NM_000053.3:c.3992A>C | NP_000044.2:p.Tyr1331Ser | |
| NM_001005918.2:c.3371A>C | NP_001005918.1:p.Tyr1124Ser | |
| NM_001243182.1:c.3659A>C | NP_001230111.1:p.Tyr1220Ser | |
| XM_005266423.2:c.3896A>C | XP_005266480.1:p.Tyr1299Ser | |
| XM_005266424.3:c.3896A>C | XP_005266481.1:p.Tyr1299Ser | |
| XM_005266427.2:c.3758A>C | XP_005266484.1:p.Tyr1253Ser | |
| XM_005266428.1:c.3740A>C | XP_005266485.1:p.Tyr1247Ser | |
| XM_005266430.3:c.3992A>C | XP_005266487.1:p.Tyr1331Ser | |
| XM_005266431.2:c.3956A>C | XP_005266488.1:p.Tyr1319Ser | |
| XM_005266432.2:c.3506A>C | XP_005266489.1:p.Tyr1169Ser | |
| XM_006719837.2:c.3896A>C | XP_006719900.1:p.Tyr1299Ser | |
| XM_006719838.1:c.1808A>C | XP_006719901.1:p.Tyr603Ser | |
| XM_006719839.1:c.1625A>C | XP_006719902.1:p.Tyr542Ser | |
| XM_011535117.1:c.3896A>C | XP_011533419.1:p.Tyr1299Ser | |
| XM_011535118.1:c.3857A>C | XP_011533420.1:p.Tyr1286Ser | |
| XM_011535119.1:c.3809A>C | XP_011533421.1:p.Tyr1270Ser | |
| XM_011535120.1:c.3578A>C | XP_011533422.1:p.Tyr1193Ser | |
| XM_011535121.1:c.3479A>C | XP_011533423.1:p.Tyr1160Ser | |
| XM_011535122.1:c.2660A>C | XP_011533424.1:p.Tyr887Ser | |
| XR_941601.1:n.4211A>C | ||
| XR_941602.1:n.4211A>C | ||
| XR_941603.1:n.4211A>C | ||
| XR_941604.1:n.4211A>C | ||
| NM_001330578.1:c.3758A>C | NP_001317507.1:p.Tyr1253Ser | |
| NM_001330579.1:c.3740A>C | NP_001317508.1:p.Tyr1247Ser | |
| XM_005266424.4:c.3896A>C | XP_005266481.1:p.Tyr1299Ser | |
| XM_005266430.4:c.3992A>C | XP_005266487.1:p.Tyr1331Ser | |
| XM_005266431.4:c.3956A>C | XP_005266488.1:p.Tyr1319Ser | |
| XM_006719837.3:c.3896A>C | XP_006719900.1:p.Tyr1299Ser | |
| XM_011535117.3:c.3896A>C | XP_011533419.1:p.Tyr1299Ser | |
| XM_017020627.1:c.3896A>C | XP_016876116.1:p.Tyr1299Ser | |
| NM_000053.4:c.3992A>C MANE Select | NP_000044.2:p.Tyr1331Ser | |
| NM_001005918.3:c.3371A>C | NP_001005918.1:p.Tyr1124Ser | |
| NM_001330579.2:c.3740A>C | NP_001317508.1:p.Tyr1247Ser | |
| NM_001243182.2:c.3659A>C | NP_001230111.1:p.Tyr1220Ser | |
| NM_001330578.2:c.3758A>C | NP_001317507.1:p.Tyr1253Ser |