Linked Data
ClinVar Variation Id:
312384
dbSNP Id:
rs746485916
ExAC:
13:52518367 G / A
gnomAD v2:
13-52518367-G-A
gnomAD v3:
13-51944231-G-A
gnomAD v4:
13-51944231-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944231G>A , CM000675.2:g.51944231G>A | GRCh38 |
| NC_000013.10:g.52518367G>A , CM000675.1:g.52518367G>A | GRCh37 |
| NC_000013.9:g.51416368G>A | NCBI36 |
| NG_008806.1:g.72264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1677C>T | ENSP00000489512.2:n.*894-1677C>T | |
| ENST00000673864.2:c.*1865C>T | ENSP00000501045.2:n.*1865C>T | |
| ENST00000674147.2:c.2500C>T | ENSP00000500964.2:p.Arg834Trp | |
| ENST00000242839.10:c.3121C>T MANE Select | ENSP00000242839.5:p.Arg1041Trp | |
| ENST00000344297.9:c.2500C>T | ENSP00000342559.5:p.Arg834Trp | |
| ENST00000400366.6:c.2788C>T | ENSP00000383217.3:p.Arg930Trp | |
| ENST00000448424.7:c.2869C>T | ENSP00000416738.3:p.Arg957Trp | |
| ENST00000673772.1:c.2887C>T | ENSP00000501168.1:p.Arg963Trp | |
| ENST00000673867.1:n.3260C>T | ||
| ENST00000674126.1:n.3484C>T | ||
| ENST00000674147.1:c.2056C>T | ENSP00000500964.1:p.Arg686Trp | |
| ENST00000242839.8:c.3121C>T | ENSP00000242839.4:p.Arg1041Trp | |
| ENST00000344297.8:c.2500C>T | ENSP00000342559.5:p.Arg834Trp | |
| ENST00000400366.5:c.2788C>T | ENSP00000383217.3:p.Arg930Trp | |
| ENST00000400370.8:c.1831C>T | ENSP00000383221.3:p.Arg611Trp | |
| ENST00000418097.7:c.2926C>T | ENSP00000393343.2:p.Arg976Trp | |
| ENST00000448424.6:c.2887C>T | ENSP00000416738.2:p.Arg963Trp | |
| ENST00000466629.1:n.341C>T | ||
| ENST00000634296.1:c.1022-1677C>T | ||
| ENST00000634308.1:c.*222C>T | ENSP00000489234.1:n.*222C>T | |
| ENST00000634620.1:n.3865C>T | ||
| ENST00000634810.1:n.2466C>T | ||
| ENST00000634844.1:c.2977C>T | ENSP00000489398.1:p.Arg993Trp | |
| ENST00000635406.1:n.467C>T | ||
| NM_000053.3:c.3121C>T | NP_000044.2:p.Arg1041Trp | |
| NM_001005918.2:c.2500C>T | NP_001005918.1:p.Arg834Trp | |
| NM_001243182.1:c.2788C>T | NP_001230111.1:p.Arg930Trp | |
| XM_005266423.2:c.3025C>T | XP_005266480.1:p.Arg1009Trp | |
| XM_005266424.3:c.3025C>T | XP_005266481.1:p.Arg1009Trp | |
| XM_005266427.2:c.2887C>T | XP_005266484.1:p.Arg963Trp | |
| XM_005266428.1:c.2869C>T | XP_005266485.1:p.Arg957Trp | |
| XM_005266430.3:c.3121C>T | XP_005266487.1:p.Arg1041Trp | |
| XM_005266431.2:c.3085C>T | XP_005266488.1:p.Arg1029Trp | |
| XM_005266432.2:c.2635C>T | XP_005266489.1:p.Arg879Trp | |
| XM_006719837.2:c.3025C>T | XP_006719900.1:p.Arg1009Trp | |
| XM_006719838.1:c.937C>T | XP_006719901.1:p.Arg313Trp | |
| XM_006719839.1:c.877-1677C>T | XP_006719902.1:n.877-1677C>T | |
| XM_011535117.1:c.3025C>T | XP_011533419.1:p.Arg1009Trp | |
| XM_011535118.1:c.2986C>T | XP_011533420.1:p.Arg996Trp | |
| XM_011535119.1:c.3061-1677C>T | XP_011533421.1:n.3061-1677C>T | |
| XM_011535120.1:c.2707C>T | XP_011533422.1:p.Arg903Trp | |
| XM_011535121.1:c.2731-1677C>T | XP_011533423.1:n.2731-1677C>T | |
| XM_011535122.1:c.1789C>T | XP_011533424.1:p.Arg597Trp | |
| XR_941601.1:n.3340C>T | ||
| XR_941602.1:n.3340C>T | ||
| XR_941603.1:n.3340C>T | ||
| XR_941604.1:n.3340C>T | ||
| NM_001330578.1:c.2887C>T | NP_001317507.1:p.Arg963Trp | |
| NM_001330579.1:c.2869C>T | NP_001317508.1:p.Arg957Trp | |
| XM_005266424.4:c.3025C>T | XP_005266481.1:p.Arg1009Trp | |
| XM_005266430.4:c.3121C>T | XP_005266487.1:p.Arg1041Trp | |
| XM_005266431.4:c.3085C>T | XP_005266488.1:p.Arg1029Trp | |
| XM_006719837.3:c.3025C>T | XP_006719900.1:p.Arg1009Trp | |
| XM_011535117.3:c.3025C>T | XP_011533419.1:p.Arg1009Trp | |
| XM_017020627.1:c.3025C>T | XP_016876116.1:p.Arg1009Trp | |
| NM_000053.4:c.3121C>T MANE Select | NP_000044.2:p.Arg1041Trp | |
| NM_001005918.3:c.2500C>T | NP_001005918.1:p.Arg834Trp | |
| NM_001330579.2:c.2869C>T | NP_001317508.1:p.Arg957Trp | |
| NM_001243182.2:c.2788C>T | NP_001230111.1:p.Arg930Trp | |
| NM_001330578.2:c.2887C>T | NP_001317507.1:p.Arg963Trp |