Linked Data
ClinVar Variation Id:
456557
dbSNP Id:
rs374628199
ExAC:
13:52511799 A / C
gnomAD v2:
13-52511799-A-C
gnomAD v3:
13-51937663-A-C
gnomAD v4:
13-51937663-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937663A>C , CM000675.2:g.51937663A>C | GRCh38 |
| NC_000013.10:g.52511799A>C , CM000675.1:g.52511799A>C | GRCh37 |
| NC_000013.9:g.51409800A>C | NCBI36 |
| NG_008806.1:g.78832T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1366T>G | ENSP00000489512.2:n.*1366T>G | |
| ENST00000673864.2:c.*2460T>G | ENSP00000501045.2:n.*2460T>G | |
| ENST00000674147.2:c.3095T>G | ENSP00000500964.2:p.Val1032Gly | |
| ENST00000242839.10:c.3716T>G MANE Select | ENSP00000242839.5:p.Val1239Gly | |
| ENST00000344297.9:c.3095T>G | ENSP00000342559.5:p.Val1032Gly | |
| ENST00000400366.6:c.3383T>G | ENSP00000383217.3:p.Val1128Gly | |
| ENST00000448424.7:c.3464T>G | ENSP00000416738.3:p.Val1155Gly | |
| ENST00000673696.1:n.957T>G | ||
| ENST00000673772.1:c.3482T>G | ENSP00000501168.1:p.Val1161Gly | |
| ENST00000673867.1:n.3855T>G | ||
| ENST00000673923.1:n.582T>G | ||
| ENST00000674147.1:c.2651T>G | ENSP00000500964.1:p.Val884Gly | |
| ENST00000242839.8:c.3716T>G | ENSP00000242839.4:p.Val1239Gly | |
| ENST00000344297.8:c.3095T>G | ENSP00000342559.5:p.Val1032Gly | |
| ENST00000400366.5:c.3383T>G | ENSP00000383217.3:p.Val1128Gly | |
| ENST00000400370.8:c.2426T>G | ENSP00000383221.3:p.Val809Gly | |
| ENST00000418097.7:c.3521T>G | ENSP00000393343.2:p.Val1174Gly | |
| ENST00000448424.6:c.3482T>G | ENSP00000416738.2:p.Val1161Gly | |
| ENST00000634296.1:c.1494T>G | ||
| ENST00000634308.1:c.*817T>G | ENSP00000489234.1:n.*817T>G | |
| ENST00000634620.1:n.4460T>G | ||
| ENST00000634810.1:n.3061T>G | ||
| ENST00000634844.1:c.3572T>G | ENSP00000489398.1:p.Val1191Gly | |
| NM_000053.3:c.3716T>G | NP_000044.2:p.Val1239Gly | |
| NM_001005918.2:c.3095T>G | NP_001005918.1:p.Val1032Gly | |
| NM_001243182.1:c.3383T>G | NP_001230111.1:p.Val1128Gly | |
| XM_005266423.2:c.3620T>G | XP_005266480.1:p.Val1207Gly | |
| XM_005266424.3:c.3620T>G | XP_005266481.1:p.Val1207Gly | |
| XM_005266427.2:c.3482T>G | XP_005266484.1:p.Val1161Gly | |
| XM_005266428.1:c.3464T>G | XP_005266485.1:p.Val1155Gly | |
| XM_005266430.3:c.3716T>G | XP_005266487.1:p.Val1239Gly | |
| XM_005266431.2:c.3680T>G | XP_005266488.1:p.Val1227Gly | |
| XM_005266432.2:c.3230T>G | XP_005266489.1:p.Val1077Gly | |
| XM_006719837.2:c.3620T>G | XP_006719900.1:p.Val1207Gly | |
| XM_006719838.1:c.1532T>G | XP_006719901.1:p.Val511Gly | |
| XM_006719839.1:c.1349T>G | XP_006719902.1:p.Val450Gly | |
| XM_011535117.1:c.3620T>G | XP_011533419.1:p.Val1207Gly | |
| XM_011535118.1:c.3581T>G | XP_011533420.1:p.Val1194Gly | |
| XM_011535119.1:c.3533T>G | XP_011533421.1:p.Val1178Gly | |
| XM_011535120.1:c.3302T>G | XP_011533422.1:p.Val1101Gly | |
| XM_011535121.1:c.3203T>G | XP_011533423.1:p.Val1068Gly | |
| XM_011535122.1:c.2384T>G | XP_011533424.1:p.Val795Gly | |
| XR_941601.1:n.3935T>G | ||
| XR_941602.1:n.3935T>G | ||
| XR_941603.1:n.3935T>G | ||
| XR_941604.1:n.3935T>G | ||
| NM_001330578.1:c.3482T>G | NP_001317507.1:p.Val1161Gly | |
| NM_001330579.1:c.3464T>G | NP_001317508.1:p.Val1155Gly | |
| XM_005266424.4:c.3620T>G | XP_005266481.1:p.Val1207Gly | |
| XM_005266430.4:c.3716T>G | XP_005266487.1:p.Val1239Gly | |
| XM_005266431.4:c.3680T>G | XP_005266488.1:p.Val1227Gly | |
| XM_006719837.3:c.3620T>G | XP_006719900.1:p.Val1207Gly | |
| XM_011535117.3:c.3620T>G | XP_011533419.1:p.Val1207Gly | |
| XM_017020627.1:c.3620T>G | XP_016876116.1:p.Val1207Gly | |
| NM_000053.4:c.3716T>G MANE Select | NP_000044.2:p.Val1239Gly | |
| NM_001005918.3:c.3095T>G | NP_001005918.1:p.Val1032Gly | |
| NM_001330579.2:c.3464T>G | NP_001317508.1:p.Val1155Gly | |
| NM_001243182.2:c.3383T>G | NP_001230111.1:p.Val1128Gly | |
| NM_001330578.2:c.3482T>G | NP_001317507.1:p.Val1161Gly |