Linked Data
ClinVar Variation Id:
3073279
ClinVar RCV Id:
RCV004015293
dbSNP Id:
rs1485647003
gnomAD v2:
13-52515346-T-A
gnomAD v4:
13-51941210-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941210T>A , CM000675.2:g.51941210T>A | GRCh38 |
| NC_000013.10:g.52515346T>A , CM000675.1:g.52515346T>A | GRCh37 |
| NC_000013.9:g.51413347T>A | NCBI36 |
| NG_008806.1:g.75285A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1077A>T | ENSP00000489512.2:n.*1077A>T | |
| ENST00000673864.2:c.*2171A>T | ENSP00000501045.2:n.*2171A>T | |
| ENST00000674147.2:c.2806A>T | ENSP00000500964.2:p.Thr936Ser | |
| ENST00000242839.10:c.3427A>T MANE Select | ENSP00000242839.5:p.Thr1143Ser | |
| ENST00000344297.9:c.2806A>T | ENSP00000342559.5:p.Thr936Ser | |
| ENST00000400366.6:c.3094A>T | ENSP00000383217.3:p.Thr1032Ser | |
| ENST00000448424.7:c.3175A>T | ENSP00000416738.3:p.Thr1059Ser | |
| ENST00000673772.1:c.3193A>T | ENSP00000501168.1:p.Thr1065Ser | |
| ENST00000673867.1:n.3566A>T | ||
| ENST00000674126.1:n.3790A>T | ||
| ENST00000674147.1:c.2362A>T | ENSP00000500964.1:p.Thr788Ser | |
| ENST00000242839.8:c.3427A>T | ENSP00000242839.4:p.Thr1143Ser | |
| ENST00000344297.8:c.2806A>T | ENSP00000342559.5:p.Thr936Ser | |
| ENST00000400366.5:c.3094A>T | ENSP00000383217.3:p.Thr1032Ser | |
| ENST00000400370.8:c.2137A>T | ENSP00000383221.3:p.Thr713Ser | |
| ENST00000418097.7:c.3232A>T | ENSP00000393343.2:p.Thr1078Ser | |
| ENST00000448424.6:c.3193A>T | ENSP00000416738.2:p.Thr1065Ser | |
| ENST00000634296.1:c.1205A>T | ||
| ENST00000634308.1:c.*528A>T | ENSP00000489234.1:n.*528A>T | |
| ENST00000634620.1:n.4171A>T | ||
| ENST00000634810.1:n.2772A>T | ||
| ENST00000634844.1:c.3283A>T | ENSP00000489398.1:p.Thr1095Ser | |
| NM_000053.3:c.3427A>T | NP_000044.2:p.Thr1143Ser | |
| NM_001005918.2:c.2806A>T | NP_001005918.1:p.Thr936Ser | |
| NM_001243182.1:c.3094A>T | NP_001230111.1:p.Thr1032Ser | |
| XM_005266423.2:c.3331A>T | XP_005266480.1:p.Thr1111Ser | |
| XM_005266424.3:c.3331A>T | XP_005266481.1:p.Thr1111Ser | |
| XM_005266427.2:c.3193A>T | XP_005266484.1:p.Thr1065Ser | |
| XM_005266428.1:c.3175A>T | XP_005266485.1:p.Thr1059Ser | |
| XM_005266430.3:c.3427A>T | XP_005266487.1:p.Thr1143Ser | |
| XM_005266431.2:c.3391A>T | XP_005266488.1:p.Thr1131Ser | |
| XM_005266432.2:c.2941A>T | XP_005266489.1:p.Thr981Ser | |
| XM_006719837.2:c.3331A>T | XP_006719900.1:p.Thr1111Ser | |
| XM_006719838.1:c.1243A>T | XP_006719901.1:p.Thr415Ser | |
| XM_006719839.1:c.1060A>T | XP_006719902.1:p.Thr354Ser | |
| XM_011535117.1:c.3331A>T | XP_011533419.1:p.Thr1111Ser | |
| XM_011535118.1:c.3292A>T | XP_011533420.1:p.Thr1098Ser | |
| XM_011535119.1:c.3244A>T | XP_011533421.1:p.Thr1082Ser | |
| XM_011535120.1:c.3013A>T | XP_011533422.1:p.Thr1005Ser | |
| XM_011535121.1:c.2914A>T | XP_011533423.1:p.Thr972Ser | |
| XM_011535122.1:c.2095A>T | XP_011533424.1:p.Thr699Ser | |
| XR_941601.1:n.3646A>T | ||
| XR_941602.1:n.3646A>T | ||
| XR_941603.1:n.3646A>T | ||
| XR_941604.1:n.3646A>T | ||
| NM_001330578.1:c.3193A>T | NP_001317507.1:p.Thr1065Ser | |
| NM_001330579.1:c.3175A>T | NP_001317508.1:p.Thr1059Ser | |
| XM_005266424.4:c.3331A>T | XP_005266481.1:p.Thr1111Ser | |
| XM_005266430.4:c.3427A>T | XP_005266487.1:p.Thr1143Ser | |
| XM_005266431.4:c.3391A>T | XP_005266488.1:p.Thr1131Ser | |
| XM_006719837.3:c.3331A>T | XP_006719900.1:p.Thr1111Ser | |
| XM_011535117.3:c.3331A>T | XP_011533419.1:p.Thr1111Ser | |
| XM_017020627.1:c.3331A>T | XP_016876116.1:p.Thr1111Ser | |
| NM_000053.4:c.3427A>T MANE Select | NP_000044.2:p.Thr1143Ser | |
| NM_001005918.3:c.2806A>T | NP_001005918.1:p.Thr936Ser | |
| NM_001330579.2:c.3175A>T | NP_001317508.1:p.Thr1059Ser | |
| NM_001243182.2:c.3094A>T | NP_001230111.1:p.Thr1032Ser | |
| NM_001330578.2:c.3193A>T | NP_001317507.1:p.Thr1065Ser |