Linked Data
ClinVar Variation Id:
495402
ClinVar RCV Id:
RCV000589652
dbSNP Id:
rs770829226
ExAC:
13:52539174 A / C
gnomAD v2:
13-52539174-A-C
gnomAD v3:
13-51965038-A-C
gnomAD v4:
13-51965038-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51965038A>C , CM000675.2:g.51965038A>C | GRCh38 |
| NC_000013.10:g.52539174A>C , CM000675.1:g.52539174A>C | GRCh37 |
| NC_000013.9:g.51437175A>C | NCBI36 |
| NG_008806.1:g.51457T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.1708-5T>G | ENSP00000489512.2:n.1708-5T>G | |
| ENST00000673864.2:c.*452-5T>G | ENSP00000501045.2:n.*452-5T>G | |
| ENST00000674147.2:c.1708-5T>G | ENSP00000500964.2:n.1708-5T>G | |
| ENST00000242839.10:c.1708-5T>G MANE Select | ENSP00000242839.5:n.1708-5T>G | |
| ENST00000344297.9:c.1708-5T>G | ENSP00000342559.5:n.1708-5T>G | |
| ENST00000400366.6:c.1375-5T>G | ENSP00000383217.3:n.1375-5T>G | |
| ENST00000448424.7:c.1708-5T>G | ENSP00000416738.3:n.1708-5T>G | |
| ENST00000483772.2:n.464-5T>G | ||
| ENST00000673772.1:c.1708-5T>G | ENSP00000501168.1:n.1708-5T>G | |
| ENST00000673864.1:c.902-5T>G | ENSP00000501045.1:n.902-5T>G | |
| ENST00000674147.1:c.1264-5T>G | ENSP00000500964.1:n.1264-5T>G | |
| ENST00000242839.8:c.1708-5T>G | ENSP00000242839.4:n.1708-5T>G | |
| ENST00000344297.8:c.1708-5T>G | ENSP00000342559.5:n.1708-5T>G | |
| ENST00000400366.5:c.1375-5T>G | ENSP00000383217.3:n.1375-5T>G | |
| ENST00000400370.8:c.1285+8897T>G | ENSP00000383221.3:n.1285+8897T>G | |
| ENST00000418097.7:c.1708-5T>G | ENSP00000393343.2:n.1708-5T>G | |
| ENST00000448424.6:c.1708-5T>G | ENSP00000416738.2:n.1708-5T>G | |
| ENST00000482841.6:n.1664+5454T>G | ||
| ENST00000483772.1:n.464-5T>G | ||
| ENST00000634308.1:c.1708-5T>G | ENSP00000489234.1:n.1708-5T>G | |
| ENST00000634620.1:n.200-5T>G | ||
| ENST00000634844.1:c.1708-5T>G | ENSP00000489398.1:n.1708-5T>G | |
| ENST00000635406.1:n.212-18560T>G | ||
| NM_000053.3:c.1708-5T>G | NP_000044.2:n.1708-5T>G | |
| NM_001005918.2:c.1708-5T>G | NP_001005918.1:n.1708-5T>G | |
| NM_001243182.1:c.1375-5T>G | NP_001230111.1:n.1375-5T>G | |
| XM_005266423.2:c.1612-5T>G | XP_005266480.1:n.1612-5T>G | |
| XM_005266424.3:c.1612-5T>G | XP_005266481.1:n.1612-5T>G | |
| XM_005266427.2:c.1708-5T>G | XP_005266484.1:n.1708-5T>G | |
| XM_005266428.1:c.1708-5T>G | XP_005266485.1:n.1708-5T>G | |
| XM_005266430.3:c.1708-5T>G | XP_005266487.1:n.1708-5T>G | |
| XM_005266431.2:c.1672-5T>G | XP_005266488.1:n.1672-5T>G | |
| XM_005266432.2:c.1708-5T>G | XP_005266489.1:n.1708-5T>G | |
| XM_006719837.2:c.1612-5T>G | XP_006719900.1:n.1612-5T>G | |
| XM_011535117.1:c.1612-5T>G | XP_011533419.1:n.1612-5T>G | |
| XM_011535118.1:c.1708-5T>G | XP_011533420.1:n.1708-5T>G | |
| XM_011535119.1:c.1708-5T>G | XP_011533421.1:n.1708-5T>G | |
| XM_011535120.1:c.1707+3406T>G | XP_011533422.1:n.1707+3406T>G | |
| XM_011535121.1:c.1708-5T>G | XP_011533423.1:n.1708-5T>G | |
| XM_011535122.1:c.376-5T>G | XP_011533424.1:n.376-5T>G | |
| XR_941601.1:n.1927-5T>G | ||
| XR_941602.1:n.1927-5T>G | ||
| XR_941603.1:n.1927-5T>G | ||
| XR_941604.1:n.1927-5T>G | ||
| NM_001330578.1:c.1708-5T>G | NP_001317507.1:n.1708-5T>G | |
| NM_001330579.1:c.1708-5T>G | NP_001317508.1:n.1708-5T>G | |
| XM_005266424.4:c.1612-5T>G | XP_005266481.1:n.1612-5T>G | |
| XM_005266430.4:c.1708-5T>G | XP_005266487.1:n.1708-5T>G | |
| XM_005266431.4:c.1672-5T>G | XP_005266488.1:n.1672-5T>G | |
| XM_006719837.3:c.1612-5T>G | XP_006719900.1:n.1612-5T>G | |
| XM_011535117.3:c.1612-5T>G | XP_011533419.1:n.1612-5T>G | |
| XM_017020627.1:c.1612-5T>G | XP_016876116.1:n.1612-5T>G | |
| NM_000053.4:c.1708-5T>G MANE Select | NP_000044.2:n.1708-5T>G | |
| NM_001005918.3:c.1708-5T>G | NP_001005918.1:n.1708-5T>G | |
| NM_001330579.2:c.1708-5T>G | NP_001317508.1:n.1708-5T>G | |
| NM_001243182.2:c.1375-5T>G | NP_001230111.1:n.1375-5T>G | |
| NM_001330578.2:c.1708-5T>G | NP_001317507.1:n.1708-5T>G |