Linked Data
ClinVar Variation Id:
288242
dbSNP Id:
rs375007352
ExAC:
13:52511729 G / A
gnomAD v2:
13-52511729-G-A
gnomAD v3:
13-51937593-G-A
gnomAD v4:
13-51937593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937593G>A , CM000675.2:g.51937593G>A | GRCh38 |
| NC_000013.10:g.52511729G>A , CM000675.1:g.52511729G>A | GRCh37 |
| NC_000013.9:g.51409730G>A | NCBI36 |
| NG_008806.1:g.78902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1436C>T | ENSP00000489512.2:n.*1436C>T | |
| ENST00000673864.2:c.*2530C>T | ENSP00000501045.2:n.*2530C>T | |
| ENST00000674147.2:c.3165C>T | ENSP00000500964.2:p.Val1055= | |
| ENST00000242839.10:c.3786C>T MANE Select | ENSP00000242839.5:p.Val1262= | |
| ENST00000344297.9:c.3165C>T | ENSP00000342559.5:p.Val1055= | |
| ENST00000400366.6:c.3453C>T | ENSP00000383217.3:p.Val1151= | |
| ENST00000448424.7:c.3534C>T | ENSP00000416738.3:p.Val1178= | |
| ENST00000673696.1:n.1027C>T | ||
| ENST00000673772.1:c.3552C>T | ENSP00000501168.1:p.Val1184= | |
| ENST00000673867.1:n.3925C>T | ||
| ENST00000673923.1:n.652C>T | ||
| ENST00000674147.1:c.2721C>T | ENSP00000500964.1:p.Val907= | |
| ENST00000242839.8:c.3786C>T | ENSP00000242839.4:p.Val1262= | |
| ENST00000344297.8:c.3165C>T | ENSP00000342559.5:p.Val1055= | |
| ENST00000400366.5:c.3453C>T | ENSP00000383217.3:p.Val1151= | |
| ENST00000400370.8:c.2496C>T | ENSP00000383221.3:p.Val832= | |
| ENST00000418097.7:c.3591C>T | ENSP00000393343.2:p.Val1197= | |
| ENST00000448424.6:c.3552C>T | ENSP00000416738.2:p.Val1184= | |
| ENST00000634296.1:c.1564C>T | ||
| ENST00000634308.1:c.*887C>T | ENSP00000489234.1:n.*887C>T | |
| ENST00000634620.1:n.4530C>T | ||
| ENST00000634810.1:n.3131C>T | ||
| ENST00000634844.1:c.3642C>T | ENSP00000489398.1:p.Val1214= | |
| NM_000053.3:c.3786C>T | NP_000044.2:p.Val1262= | |
| NM_001005918.2:c.3165C>T | NP_001005918.1:p.Val1055= | |
| NM_001243182.1:c.3453C>T | NP_001230111.1:p.Val1151= | |
| XM_005266423.2:c.3690C>T | XP_005266480.1:p.Val1230= | |
| XM_005266424.3:c.3690C>T | XP_005266481.1:p.Val1230= | |
| XM_005266427.2:c.3552C>T | XP_005266484.1:p.Val1184= | |
| XM_005266428.1:c.3534C>T | XP_005266485.1:p.Val1178= | |
| XM_005266430.3:c.3786C>T | XP_005266487.1:p.Val1262= | |
| XM_005266431.2:c.3750C>T | XP_005266488.1:p.Val1250= | |
| XM_005266432.2:c.3300C>T | XP_005266489.1:p.Val1100= | |
| XM_006719837.2:c.3690C>T | XP_006719900.1:p.Val1230= | |
| XM_006719838.1:c.1602C>T | XP_006719901.1:p.Val534= | |
| XM_006719839.1:c.1419C>T | XP_006719902.1:p.Val473= | |
| XM_011535117.1:c.3690C>T | XP_011533419.1:p.Val1230= | |
| XM_011535118.1:c.3651C>T | XP_011533420.1:p.Val1217= | |
| XM_011535119.1:c.3603C>T | XP_011533421.1:p.Val1201= | |
| XM_011535120.1:c.3372C>T | XP_011533422.1:p.Val1124= | |
| XM_011535121.1:c.3273C>T | XP_011533423.1:p.Val1091= | |
| XM_011535122.1:c.2454C>T | XP_011533424.1:p.Val818= | |
| XR_941601.1:n.4005C>T | ||
| XR_941602.1:n.4005C>T | ||
| XR_941603.1:n.4005C>T | ||
| XR_941604.1:n.4005C>T | ||
| NM_001330578.1:c.3552C>T | NP_001317507.1:p.Val1184= | |
| NM_001330579.1:c.3534C>T | NP_001317508.1:p.Val1178= | |
| XM_005266424.4:c.3690C>T | XP_005266481.1:p.Val1230= | |
| XM_005266430.4:c.3786C>T | XP_005266487.1:p.Val1262= | |
| XM_005266431.4:c.3750C>T | XP_005266488.1:p.Val1250= | |
| XM_006719837.3:c.3690C>T | XP_006719900.1:p.Val1230= | |
| XM_011535117.3:c.3690C>T | XP_011533419.1:p.Val1230= | |
| XM_017020627.1:c.3690C>T | XP_016876116.1:p.Val1230= | |
| NM_000053.4:c.3786C>T MANE Select | NP_000044.2:p.Val1262= | |
| NM_001005918.3:c.3165C>T | NP_001005918.1:p.Val1055= | |
| NM_001330579.2:c.3534C>T | NP_001317508.1:p.Val1178= | |
| NM_001243182.2:c.3453C>T | NP_001230111.1:p.Val1151= | |
| NM_001330578.2:c.3552C>T | NP_001317507.1:p.Val1184= |