Linked Data
ClinVar Variation Id:
370356
ClinVar RCV Id:
RCV000411590
dbSNP Id:
rs1057516425
gnomAD v3:
13-51950006-C-T
gnomAD v4:
13-51950006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51950006C>T , CM000675.2:g.51950006C>T | GRCh38 |
| NC_000013.10:g.52524142C>T , CM000675.1:g.52524142C>T | GRCh37 |
| NC_000013.9:g.51422143C>T | NCBI36 |
| NG_008806.1:g.66489G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*563+1G>A | ENSP00000489512.2:n.*563+1G>A | |
| ENST00000673864.2:c.*1474+1G>A | ENSP00000501045.2:n.*1474+1G>A | |
| ENST00000674147.2:c.2244+1G>A | ENSP00000500964.2:n.2244+1G>A | |
| ENST00000242839.10:c.2730+1G>A MANE Select | ENSP00000242839.5:n.2730+1G>A | |
| ENST00000344297.9:c.2244+1G>A | ENSP00000342559.5:n.2244+1G>A | |
| ENST00000400366.6:c.2397+1G>A | ENSP00000383217.3:n.2397+1G>A | |
| ENST00000448424.7:c.2478+1G>A | ENSP00000416738.3:n.2478+1G>A | |
| ENST00000673772.1:c.2496+1G>A | ENSP00000501168.1:n.2496+1G>A | |
| ENST00000674147.1:c.1800+1G>A | ENSP00000500964.1:n.1800+1G>A | |
| ENST00000242839.8:c.2730+1G>A | ENSP00000242839.4:n.2730+1G>A | |
| ENST00000344297.8:c.2244+1G>A | ENSP00000342559.5:n.2244+1G>A | |
| ENST00000400366.5:c.2397+1G>A | ENSP00000383217.3:n.2397+1G>A | |
| ENST00000400370.8:c.1440+1G>A | ENSP00000383221.3:n.1440+1G>A | |
| ENST00000418097.7:c.2730+1G>A | ENSP00000393343.2:n.2730+1G>A | |
| ENST00000448424.6:c.2496+1G>A | ENSP00000416738.2:n.2496+1G>A | |
| ENST00000634296.1:c.691+1G>A | ||
| ENST00000634308.1:c.2496+1G>A | ENSP00000489234.1:n.2496+1G>A | |
| ENST00000634620.1:n.3528+1G>A | ||
| ENST00000634810.1:n.2075+1G>A | ||
| ENST00000634844.1:c.2586+1G>A | ENSP00000489398.1:n.2586+1G>A | |
| ENST00000635406.1:n.212-3528G>A | ||
| NM_000053.3:c.2730+1G>A | NP_000044.2:n.2730+1G>A | |
| NM_001005918.2:c.2244+1G>A | NP_001005918.1:n.2244+1G>A | |
| NM_001243182.1:c.2397+1G>A | NP_001230111.1:n.2397+1G>A | |
| XM_005266423.2:c.2634+1G>A | XP_005266480.1:n.2634+1G>A | |
| XM_005266424.3:c.2634+1G>A | XP_005266481.1:n.2634+1G>A | |
| XM_005266427.2:c.2496+1G>A | XP_005266484.1:n.2496+1G>A | |
| XM_005266428.1:c.2478+1G>A | XP_005266485.1:n.2478+1G>A | |
| XM_005266430.3:c.2730+1G>A | XP_005266487.1:n.2730+1G>A | |
| XM_005266431.2:c.2694+1G>A | XP_005266488.1:n.2694+1G>A | |
| XM_005266432.2:c.2244+1G>A | XP_005266489.1:n.2244+1G>A | |
| XM_006719837.2:c.2634+1G>A | XP_006719900.1:n.2634+1G>A | |
| XM_006719838.1:c.546+1G>A | XP_006719901.1:n.546+1G>A | |
| XM_006719839.1:c.546+1G>A | XP_006719902.1:n.546+1G>A | |
| XM_011535117.1:c.2634+1G>A | XP_011533419.1:n.2634+1G>A | |
| XM_011535118.1:c.2730+1G>A | XP_011533420.1:n.2730+1G>A | |
| XM_011535119.1:c.2730+1G>A | XP_011533421.1:n.2730+1G>A | |
| XM_011535120.1:c.2316+1G>A | XP_011533422.1:n.2316+1G>A | |
| XM_011535121.1:c.2730+1G>A | XP_011533423.1:n.2730+1G>A | |
| XM_011535122.1:c.1398+1G>A | XP_011533424.1:n.1398+1G>A | |
| XR_941601.1:n.2949+1G>A | ||
| XR_941602.1:n.2949+1G>A | ||
| XR_941603.1:n.2949+1G>A | ||
| XR_941604.1:n.2949+1G>A | ||
| NM_001330578.1:c.2496+1G>A | NP_001317507.1:n.2496+1G>A | |
| NM_001330579.1:c.2478+1G>A | NP_001317508.1:n.2478+1G>A | |
| XM_005266424.4:c.2634+1G>A | XP_005266481.1:n.2634+1G>A | |
| XM_005266430.4:c.2730+1G>A | XP_005266487.1:n.2730+1G>A | |
| XM_005266431.4:c.2694+1G>A | XP_005266488.1:n.2694+1G>A | |
| XM_006719837.3:c.2634+1G>A | XP_006719900.1:n.2634+1G>A | |
| XM_011535117.3:c.2634+1G>A | XP_011533419.1:n.2634+1G>A | |
| XM_017020627.1:c.2634+1G>A | XP_016876116.1:n.2634+1G>A | |
| NM_000053.4:c.2730+1G>A MANE Select | NP_000044.2:n.2730+1G>A | |
| NM_001005918.3:c.2244+1G>A | NP_001005918.1:n.2244+1G>A | |
| NM_001330579.2:c.2478+1G>A | NP_001317508.1:n.2478+1G>A | |
| NM_001243182.2:c.2397+1G>A | NP_001230111.1:n.2397+1G>A | |
| NM_001330578.2:c.2496+1G>A | NP_001317507.1:n.2496+1G>A |