Linked Data
ClinVar Variation Id:
189055
dbSNP Id:
rs184388696
ExAC:
13:52515216 C / T
gnomAD v2:
13-52515216-C-T
gnomAD v3:
13-51941080-C-T
gnomAD v4:
13-51941080-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941080C>T , CM000675.2:g.51941080C>T | GRCh38 |
| NC_000013.10:g.52515216C>T , CM000675.1:g.52515216C>T | GRCh37 |
| NC_000013.9:g.51413217C>T | NCBI36 |
| NG_008806.1:g.75415G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1206+1G>A | ENSP00000489512.2:n.*1206+1G>A | |
| ENST00000673864.2:c.*2300+1G>A | ENSP00000501045.2:n.*2300+1G>A | |
| ENST00000674147.2:c.2935+1G>A | ENSP00000500964.2:n.2935+1G>A | |
| ENST00000242839.10:c.3556+1G>A MANE Select | ENSP00000242839.5:n.3556+1G>A | |
| ENST00000344297.9:c.2935+1G>A | ENSP00000342559.5:n.2935+1G>A | |
| ENST00000400366.6:c.3223+1G>A | ENSP00000383217.3:n.3223+1G>A | |
| ENST00000448424.7:c.3304+1G>A | ENSP00000416738.3:n.3304+1G>A | |
| ENST00000673772.1:c.3322+1G>A | ENSP00000501168.1:n.3322+1G>A | |
| ENST00000673867.1:n.3695+1G>A | ||
| ENST00000674126.1:n.3920G>A | ||
| ENST00000674147.1:c.2491+1G>A | ENSP00000500964.1:n.2491+1G>A | |
| ENST00000242839.8:c.3556+1G>A | ENSP00000242839.4:n.3556+1G>A | |
| ENST00000344297.8:c.2935+1G>A | ENSP00000342559.5:n.2935+1G>A | |
| ENST00000400366.5:c.3223+1G>A | ENSP00000383217.3:n.3223+1G>A | |
| ENST00000400370.8:c.2266+1G>A | ENSP00000383221.3:n.2266+1G>A | |
| ENST00000418097.7:c.3361+1G>A | ENSP00000393343.2:n.3361+1G>A | |
| ENST00000448424.6:c.3322+1G>A | ENSP00000416738.2:n.3322+1G>A | |
| ENST00000634296.1:c.1334+1G>A | ||
| ENST00000634308.1:c.*657+1G>A | ENSP00000489234.1:n.*657+1G>A | |
| ENST00000634620.1:n.4300+1G>A | ||
| ENST00000634810.1:n.2901+1G>A | ||
| ENST00000634844.1:c.3412+1G>A | ENSP00000489398.1:n.3412+1G>A | |
| NM_000053.3:c.3556+1G>A | NP_000044.2:n.3556+1G>A | |
| NM_001005918.2:c.2935+1G>A | NP_001005918.1:n.2935+1G>A | |
| NM_001243182.1:c.3223+1G>A | NP_001230111.1:n.3223+1G>A | |
| XM_005266423.2:c.3460+1G>A | XP_005266480.1:n.3460+1G>A | |
| XM_005266424.3:c.3460+1G>A | XP_005266481.1:n.3460+1G>A | |
| XM_005266427.2:c.3322+1G>A | XP_005266484.1:n.3322+1G>A | |
| XM_005266428.1:c.3304+1G>A | XP_005266485.1:n.3304+1G>A | |
| XM_005266430.3:c.3556+1G>A | XP_005266487.1:n.3556+1G>A | |
| XM_005266431.2:c.3520+1G>A | XP_005266488.1:n.3520+1G>A | |
| XM_005266432.2:c.3070+1G>A | XP_005266489.1:n.3070+1G>A | |
| XM_006719837.2:c.3460+1G>A | XP_006719900.1:n.3460+1G>A | |
| XM_006719838.1:c.1372+1G>A | XP_006719901.1:n.1372+1G>A | |
| XM_006719839.1:c.1189+1G>A | XP_006719902.1:n.1189+1G>A | |
| XM_011535117.1:c.3460+1G>A | XP_011533419.1:n.3460+1G>A | |
| XM_011535118.1:c.3421+1G>A | XP_011533420.1:n.3421+1G>A | |
| XM_011535119.1:c.3373+1G>A | XP_011533421.1:n.3373+1G>A | |
| XM_011535120.1:c.3142+1G>A | XP_011533422.1:n.3142+1G>A | |
| XM_011535121.1:c.3043+1G>A | XP_011533423.1:n.3043+1G>A | |
| XM_011535122.1:c.2224+1G>A | XP_011533424.1:n.2224+1G>A | |
| XR_941601.1:n.3775+1G>A | ||
| XR_941602.1:n.3775+1G>A | ||
| XR_941603.1:n.3775+1G>A | ||
| XR_941604.1:n.3775+1G>A | ||
| NM_001330578.1:c.3322+1G>A | NP_001317507.1:n.3322+1G>A | |
| NM_001330579.1:c.3304+1G>A | NP_001317508.1:n.3304+1G>A | |
| XM_005266424.4:c.3460+1G>A | XP_005266481.1:n.3460+1G>A | |
| XM_005266430.4:c.3556+1G>A | XP_005266487.1:n.3556+1G>A | |
| XM_005266431.4:c.3520+1G>A | XP_005266488.1:n.3520+1G>A | |
| XM_006719837.3:c.3460+1G>A | XP_006719900.1:n.3460+1G>A | |
| XM_011535117.3:c.3460+1G>A | XP_011533419.1:n.3460+1G>A | |
| XM_017020627.1:c.3460+1G>A | XP_016876116.1:n.3460+1G>A | |
| NM_000053.4:c.3556+1G>A MANE Select | NP_000044.2:n.3556+1G>A | |
| NM_001005918.3:c.2935+1G>A | NP_001005918.1:n.2935+1G>A | |
| NM_001330579.2:c.3304+1G>A | NP_001317508.1:n.3304+1G>A | |
| NM_001243182.2:c.3223+1G>A | NP_001230111.1:n.3223+1G>A | |
| NM_001330578.2:c.3322+1G>A | NP_001317507.1:n.3322+1G>A |