Linked Data
ClinVar Variation Id:
1623745
ClinVar RCV Id:
RCV002110290
dbSNP Id:
rs771897428
ExAC:
13:52518338 T / C
gnomAD v2:
13-52518338-T-C
gnomAD v4:
13-51944202-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944202T>C , CM000675.2:g.51944202T>C | GRCh38 |
| NC_000013.10:g.52518338T>C , CM000675.1:g.52518338T>C | GRCh37 |
| NC_000013.9:g.51416339T>C | NCBI36 |
| NG_008806.1:g.72293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1648A>G | ENSP00000489512.2:n.*894-1648A>G | |
| ENST00000673864.2:c.*1894A>G | ENSP00000501045.2:n.*1894A>G | |
| ENST00000674147.2:c.2529A>G | ENSP00000500964.2:p.Thr843= | |
| ENST00000242839.10:c.3150A>G MANE Select | ENSP00000242839.5:p.Thr1050= | |
| ENST00000344297.9:c.2529A>G | ENSP00000342559.5:p.Thr843= | |
| ENST00000400366.6:c.2817A>G | ENSP00000383217.3:p.Thr939= | |
| ENST00000448424.7:c.2898A>G | ENSP00000416738.3:p.Thr966= | |
| ENST00000673772.1:c.2916A>G | ENSP00000501168.1:p.Thr972= | |
| ENST00000673867.1:n.3289A>G | ||
| ENST00000674126.1:n.3513A>G | ||
| ENST00000674147.1:c.2085A>G | ENSP00000500964.1:p.Thr695= | |
| ENST00000242839.8:c.3150A>G | ENSP00000242839.4:p.Thr1050= | |
| ENST00000344297.8:c.2529A>G | ENSP00000342559.5:p.Thr843= | |
| ENST00000400366.5:c.2817A>G | ENSP00000383217.3:p.Thr939= | |
| ENST00000400370.8:c.1860A>G | ENSP00000383221.3:p.Thr620= | |
| ENST00000418097.7:c.2955A>G | ENSP00000393343.2:p.Thr985= | |
| ENST00000448424.6:c.2916A>G | ENSP00000416738.2:p.Thr972= | |
| ENST00000466629.1:n.370A>G | ||
| ENST00000634296.1:c.1022-1648A>G | ||
| ENST00000634308.1:c.*251A>G | ENSP00000489234.1:n.*251A>G | |
| ENST00000634620.1:n.3894A>G | ||
| ENST00000634810.1:n.2495A>G | ||
| ENST00000634844.1:c.3006A>G | ENSP00000489398.1:p.Thr1002= | |
| ENST00000635406.1:n.496A>G | ||
| NM_000053.3:c.3150A>G | NP_000044.2:p.Thr1050= | |
| NM_001005918.2:c.2529A>G | NP_001005918.1:p.Thr843= | |
| NM_001243182.1:c.2817A>G | NP_001230111.1:p.Thr939= | |
| XM_005266423.2:c.3054A>G | XP_005266480.1:p.Thr1018= | |
| XM_005266424.3:c.3054A>G | XP_005266481.1:p.Thr1018= | |
| XM_005266427.2:c.2916A>G | XP_005266484.1:p.Thr972= | |
| XM_005266428.1:c.2898A>G | XP_005266485.1:p.Thr966= | |
| XM_005266430.3:c.3150A>G | XP_005266487.1:p.Thr1050= | |
| XM_005266431.2:c.3114A>G | XP_005266488.1:p.Thr1038= | |
| XM_005266432.2:c.2664A>G | XP_005266489.1:p.Thr888= | |
| XM_006719837.2:c.3054A>G | XP_006719900.1:p.Thr1018= | |
| XM_006719838.1:c.966A>G | XP_006719901.1:p.Thr322= | |
| XM_006719839.1:c.877-1648A>G | XP_006719902.1:n.877-1648A>G | |
| XM_011535117.1:c.3054A>G | XP_011533419.1:p.Thr1018= | |
| XM_011535118.1:c.3015A>G | XP_011533420.1:p.Thr1005= | |
| XM_011535119.1:c.3061-1648A>G | XP_011533421.1:n.3061-1648A>G | |
| XM_011535120.1:c.2736A>G | XP_011533422.1:p.Thr912= | |
| XM_011535121.1:c.2731-1648A>G | XP_011533423.1:n.2731-1648A>G | |
| XM_011535122.1:c.1818A>G | XP_011533424.1:p.Thr606= | |
| XR_941601.1:n.3369A>G | ||
| XR_941602.1:n.3369A>G | ||
| XR_941603.1:n.3369A>G | ||
| XR_941604.1:n.3369A>G | ||
| NM_001330578.1:c.2916A>G | NP_001317507.1:p.Thr972= | |
| NM_001330579.1:c.2898A>G | NP_001317508.1:p.Thr966= | |
| XM_005266424.4:c.3054A>G | XP_005266481.1:p.Thr1018= | |
| XM_005266430.4:c.3150A>G | XP_005266487.1:p.Thr1050= | |
| XM_005266431.4:c.3114A>G | XP_005266488.1:p.Thr1038= | |
| XM_006719837.3:c.3054A>G | XP_006719900.1:p.Thr1018= | |
| XM_011535117.3:c.3054A>G | XP_011533419.1:p.Thr1018= | |
| XM_017020627.1:c.3054A>G | XP_016876116.1:p.Thr1018= | |
| NM_000053.4:c.3150A>G MANE Select | NP_000044.2:p.Thr1050= | |
| NM_001005918.3:c.2529A>G | NP_001005918.1:p.Thr843= | |
| NM_001330579.2:c.2898A>G | NP_001317508.1:p.Thr966= | |
| NM_001243182.2:c.2817A>G | NP_001230111.1:p.Thr939= | |
| NM_001330578.2:c.2916A>G | NP_001317507.1:p.Thr972= |