Linked Data
ClinVar Variation Id:
1482682
ClinVar RCV Id:
RCV002025240
dbSNP Id:
rs1957038377
gnomAD v4:
13-51937480-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937480A>G , CM000675.2:g.51937480A>G | GRCh38 |
| NC_000013.10:g.52511616A>G , CM000675.1:g.52511616A>G | GRCh37 |
| NC_000013.9:g.51409617A>G | NCBI36 |
| NG_008806.1:g.79015T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1549T>C | ENSP00000489512.2:n.*1549T>C | |
| ENST00000673864.2:c.*2643T>C | ENSP00000501045.2:n.*2643T>C | |
| ENST00000674147.2:c.3278T>C | ENSP00000500964.2:p.Ile1093Thr | |
| ENST00000242839.10:c.3899T>C MANE Select | ENSP00000242839.5:p.Ile1300Thr | |
| ENST00000344297.9:c.3278T>C | ENSP00000342559.5:p.Ile1093Thr | |
| ENST00000400366.6:c.3566T>C | ENSP00000383217.3:p.Ile1189Thr | |
| ENST00000448424.7:c.3647T>C | ENSP00000416738.3:p.Ile1216Thr | |
| ENST00000673696.1:n.1140T>C | ||
| ENST00000673772.1:c.3665T>C | ENSP00000501168.1:p.Ile1222Thr | |
| ENST00000673867.1:n.4038T>C | ||
| ENST00000673923.1:n.765T>C | ||
| ENST00000674147.1:c.2834T>C | ENSP00000500964.1:p.Ile945Thr | |
| ENST00000242839.8:c.3899T>C | ENSP00000242839.4:p.Ile1300Thr | |
| ENST00000344297.8:c.3278T>C | ENSP00000342559.5:p.Ile1093Thr | |
| ENST00000400366.5:c.3566T>C | ENSP00000383217.3:p.Ile1189Thr | |
| ENST00000400370.8:c.2609T>C | ENSP00000383221.3:p.Ile870Thr | |
| ENST00000418097.7:c.3704T>C | ENSP00000393343.2:p.Ile1235Thr | |
| ENST00000448424.6:c.3665T>C | ENSP00000416738.2:p.Ile1222Thr | |
| ENST00000634296.1:c.1677T>C | ||
| ENST00000634308.1:c.*1000T>C | ENSP00000489234.1:n.*1000T>C | |
| ENST00000634620.1:n.4643T>C | ||
| ENST00000634810.1:n.3244T>C | ||
| ENST00000634844.1:c.3755T>C | ENSP00000489398.1:p.Ile1252Thr | |
| NM_000053.3:c.3899T>C | NP_000044.2:p.Ile1300Thr | |
| NM_001005918.2:c.3278T>C | NP_001005918.1:p.Ile1093Thr | |
| NM_001243182.1:c.3566T>C | NP_001230111.1:p.Ile1189Thr | |
| XM_005266423.2:c.3803T>C | XP_005266480.1:p.Ile1268Thr | |
| XM_005266424.3:c.3803T>C | XP_005266481.1:p.Ile1268Thr | |
| XM_005266427.2:c.3665T>C | XP_005266484.1:p.Ile1222Thr | |
| XM_005266428.1:c.3647T>C | XP_005266485.1:p.Ile1216Thr | |
| XM_005266430.3:c.3899T>C | XP_005266487.1:p.Ile1300Thr | |
| XM_005266431.2:c.3863T>C | XP_005266488.1:p.Ile1288Thr | |
| XM_005266432.2:c.3413T>C | XP_005266489.1:p.Ile1138Thr | |
| XM_006719837.2:c.3803T>C | XP_006719900.1:p.Ile1268Thr | |
| XM_006719838.1:c.1715T>C | XP_006719901.1:p.Ile572Thr | |
| XM_006719839.1:c.1532T>C | XP_006719902.1:p.Ile511Thr | |
| XM_011535117.1:c.3803T>C | XP_011533419.1:p.Ile1268Thr | |
| XM_011535118.1:c.3764T>C | XP_011533420.1:p.Ile1255Thr | |
| XM_011535119.1:c.3716T>C | XP_011533421.1:p.Ile1239Thr | |
| XM_011535120.1:c.3485T>C | XP_011533422.1:p.Ile1162Thr | |
| XM_011535121.1:c.3386T>C | XP_011533423.1:p.Ile1129Thr | |
| XM_011535122.1:c.2567T>C | XP_011533424.1:p.Ile856Thr | |
| XR_941601.1:n.4118T>C | ||
| XR_941602.1:n.4118T>C | ||
| XR_941603.1:n.4118T>C | ||
| XR_941604.1:n.4118T>C | ||
| NM_001330578.1:c.3665T>C | NP_001317507.1:p.Ile1222Thr | |
| NM_001330579.1:c.3647T>C | NP_001317508.1:p.Ile1216Thr | |
| XM_005266424.4:c.3803T>C | XP_005266481.1:p.Ile1268Thr | |
| XM_005266430.4:c.3899T>C | XP_005266487.1:p.Ile1300Thr | |
| XM_005266431.4:c.3863T>C | XP_005266488.1:p.Ile1288Thr | |
| XM_006719837.3:c.3803T>C | XP_006719900.1:p.Ile1268Thr | |
| XM_011535117.3:c.3803T>C | XP_011533419.1:p.Ile1268Thr | |
| XM_017020627.1:c.3803T>C | XP_016876116.1:p.Ile1268Thr | |
| NM_000053.4:c.3899T>C MANE Select | NP_000044.2:p.Ile1300Thr | |
| NM_001005918.3:c.3278T>C | NP_001005918.1:p.Ile1093Thr | |
| NM_001330579.2:c.3647T>C | NP_001317508.1:p.Ile1216Thr | |
| NM_001243182.2:c.3566T>C | NP_001230111.1:p.Ile1189Thr | |
| NM_001330578.2:c.3665T>C | NP_001317507.1:p.Ile1222Thr |