Linked Data
ClinVar Variation Id:
37122
dbSNP Id:
rs60431989
ExAC:
13:52515330 A / G
gnomAD v2:
13-52515330-A-G
gnomAD v3:
13-51941194-A-G
gnomAD v4:
13-51941194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941194A>G , CM000675.2:g.51941194A>G | GRCh38 |
| NC_000013.10:g.52515330A>G , CM000675.1:g.52515330A>G | GRCh37 |
| NC_000013.9:g.51413331A>G | NCBI36 |
| NG_008806.1:g.75301T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1093T>C | ENSP00000489512.2:n.*1093T>C | |
| ENST00000673864.2:c.*2187T>C | ENSP00000501045.2:n.*2187T>C | |
| ENST00000674147.2:c.2822T>C | ENSP00000500964.2:p.Ile941Thr | |
| ENST00000242839.10:c.3443T>C MANE Select | ENSP00000242839.5:p.Ile1148Thr | |
| ENST00000344297.9:c.2822T>C | ENSP00000342559.5:p.Ile941Thr | |
| ENST00000400366.6:c.3110T>C | ENSP00000383217.3:p.Ile1037Thr | |
| ENST00000448424.7:c.3191T>C | ENSP00000416738.3:p.Ile1064Thr | |
| ENST00000673772.1:c.3209T>C | ENSP00000501168.1:p.Ile1070Thr | |
| ENST00000673867.1:n.3582T>C | ||
| ENST00000674126.1:n.3806T>C | ||
| ENST00000674147.1:c.2378T>C | ENSP00000500964.1:p.Ile793Thr | |
| ENST00000242839.8:c.3443T>C | ENSP00000242839.4:p.Ile1148Thr | |
| ENST00000344297.8:c.2822T>C | ENSP00000342559.5:p.Ile941Thr | |
| ENST00000400366.5:c.3110T>C | ENSP00000383217.3:p.Ile1037Thr | |
| ENST00000400370.8:c.2153T>C | ENSP00000383221.3:p.Ile718Thr | |
| ENST00000418097.7:c.3248T>C | ENSP00000393343.2:p.Ile1083Thr | |
| ENST00000448424.6:c.3209T>C | ENSP00000416738.2:p.Ile1070Thr | |
| ENST00000634296.1:c.1221T>C | ||
| ENST00000634308.1:c.*544T>C | ENSP00000489234.1:n.*544T>C | |
| ENST00000634620.1:n.4187T>C | ||
| ENST00000634810.1:n.2788T>C | ||
| ENST00000634844.1:c.3299T>C | ENSP00000489398.1:p.Ile1100Thr | |
| NM_000053.3:c.3443T>C | NP_000044.2:p.Ile1148Thr | |
| NM_001005918.2:c.2822T>C | NP_001005918.1:p.Ile941Thr | |
| NM_001243182.1:c.3110T>C | NP_001230111.1:p.Ile1037Thr | |
| XM_005266423.2:c.3347T>C | XP_005266480.1:p.Ile1116Thr | |
| XM_005266424.3:c.3347T>C | XP_005266481.1:p.Ile1116Thr | |
| XM_005266427.2:c.3209T>C | XP_005266484.1:p.Ile1070Thr | |
| XM_005266428.1:c.3191T>C | XP_005266485.1:p.Ile1064Thr | |
| XM_005266430.3:c.3443T>C | XP_005266487.1:p.Ile1148Thr | |
| XM_005266431.2:c.3407T>C | XP_005266488.1:p.Ile1136Thr | |
| XM_005266432.2:c.2957T>C | XP_005266489.1:p.Ile986Thr | |
| XM_006719837.2:c.3347T>C | XP_006719900.1:p.Ile1116Thr | |
| XM_006719838.1:c.1259T>C | XP_006719901.1:p.Ile420Thr | |
| XM_006719839.1:c.1076T>C | XP_006719902.1:p.Ile359Thr | |
| XM_011535117.1:c.3347T>C | XP_011533419.1:p.Ile1116Thr | |
| XM_011535118.1:c.3308T>C | XP_011533420.1:p.Ile1103Thr | |
| XM_011535119.1:c.3260T>C | XP_011533421.1:p.Ile1087Thr | |
| XM_011535120.1:c.3029T>C | XP_011533422.1:p.Ile1010Thr | |
| XM_011535121.1:c.2930T>C | XP_011533423.1:p.Ile977Thr | |
| XM_011535122.1:c.2111T>C | XP_011533424.1:p.Ile704Thr | |
| XR_941601.1:n.3662T>C | ||
| XR_941602.1:n.3662T>C | ||
| XR_941603.1:n.3662T>C | ||
| XR_941604.1:n.3662T>C | ||
| NM_001330578.1:c.3209T>C | NP_001317507.1:p.Ile1070Thr | |
| NM_001330579.1:c.3191T>C | NP_001317508.1:p.Ile1064Thr | |
| XM_005266424.4:c.3347T>C | XP_005266481.1:p.Ile1116Thr | |
| XM_005266430.4:c.3443T>C | XP_005266487.1:p.Ile1148Thr | |
| XM_005266431.4:c.3407T>C | XP_005266488.1:p.Ile1136Thr | |
| XM_006719837.3:c.3347T>C | XP_006719900.1:p.Ile1116Thr | |
| XM_011535117.3:c.3347T>C | XP_011533419.1:p.Ile1116Thr | |
| XM_017020627.1:c.3347T>C | XP_016876116.1:p.Ile1116Thr | |
| NM_000053.4:c.3443T>C MANE Select | NP_000044.2:p.Ile1148Thr | |
| NM_001005918.3:c.2822T>C | NP_001005918.1:p.Ile941Thr | |
| NM_001330579.2:c.3191T>C | NP_001317508.1:p.Ile1064Thr | |
| NM_001243182.2:c.3110T>C | NP_001230111.1:p.Ile1037Thr | |
| NM_001330578.2:c.3209T>C | NP_001317507.1:p.Ile1070Thr |