Linked Data
ClinVar Variation Id:
370427
dbSNP Id:
rs1057516479
gnomAD v2:
13-52515244-G-A
gnomAD v4:
13-51941108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941108G>A , CM000675.2:g.51941108G>A | GRCh38 |
| NC_000013.10:g.52515244G>A , CM000675.1:g.52515244G>A | GRCh37 |
| NC_000013.9:g.51413245G>A | NCBI36 |
| NG_008806.1:g.75387C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1179C>T | ENSP00000489512.2:n.*1179C>T | |
| ENST00000673864.2:c.*2273C>T | ENSP00000501045.2:n.*2273C>T | |
| ENST00000674147.2:c.2908C>T | ENSP00000500964.2:p.Gln970Ter | |
| ENST00000242839.10:c.3529C>T MANE Select | ENSP00000242839.5:p.Gln1177Ter | |
| ENST00000344297.9:c.2908C>T | ENSP00000342559.5:p.Gln970Ter | |
| ENST00000400366.6:c.3196C>T | ENSP00000383217.3:p.Gln1066Ter | |
| ENST00000448424.7:c.3277C>T | ENSP00000416738.3:p.Gln1093Ter | |
| ENST00000673772.1:c.3295C>T | ENSP00000501168.1:p.Gln1099Ter | |
| ENST00000673867.1:n.3668C>T | ||
| ENST00000674126.1:n.3892C>T | ||
| ENST00000674147.1:c.2464C>T | ENSP00000500964.1:p.Gln822Ter | |
| ENST00000242839.8:c.3529C>T | ENSP00000242839.4:p.Gln1177Ter | |
| ENST00000344297.8:c.2908C>T | ENSP00000342559.5:p.Gln970Ter | |
| ENST00000400366.5:c.3196C>T | ENSP00000383217.3:p.Gln1066Ter | |
| ENST00000400370.8:c.2239C>T | ENSP00000383221.3:p.Gln747Ter | |
| ENST00000418097.7:c.3334C>T | ENSP00000393343.2:p.Gln1112Ter | |
| ENST00000448424.6:c.3295C>T | ENSP00000416738.2:p.Gln1099Ter | |
| ENST00000634296.1:c.1307C>T | ||
| ENST00000634308.1:c.*630C>T | ENSP00000489234.1:n.*630C>T | |
| ENST00000634620.1:n.4273C>T | ||
| ENST00000634810.1:n.2874C>T | ||
| ENST00000634844.1:c.3385C>T | ENSP00000489398.1:p.Gln1129Ter | |
| NM_000053.3:c.3529C>T | NP_000044.2:p.Gln1177Ter | |
| NM_001005918.2:c.2908C>T | NP_001005918.1:p.Gln970Ter | |
| NM_001243182.1:c.3196C>T | NP_001230111.1:p.Gln1066Ter | |
| XM_005266423.2:c.3433C>T | XP_005266480.1:p.Gln1145Ter | |
| XM_005266424.3:c.3433C>T | XP_005266481.1:p.Gln1145Ter | |
| XM_005266427.2:c.3295C>T | XP_005266484.1:p.Gln1099Ter | |
| XM_005266428.1:c.3277C>T | XP_005266485.1:p.Gln1093Ter | |
| XM_005266430.3:c.3529C>T | XP_005266487.1:p.Gln1177Ter | |
| XM_005266431.2:c.3493C>T | XP_005266488.1:p.Gln1165Ter | |
| XM_005266432.2:c.3043C>T | XP_005266489.1:p.Gln1015Ter | |
| XM_006719837.2:c.3433C>T | XP_006719900.1:p.Gln1145Ter | |
| XM_006719838.1:c.1345C>T | XP_006719901.1:p.Gln449Ter | |
| XM_006719839.1:c.1162C>T | XP_006719902.1:p.Gln388Ter | |
| XM_011535117.1:c.3433C>T | XP_011533419.1:p.Gln1145Ter | |
| XM_011535118.1:c.3394C>T | XP_011533420.1:p.Gln1132Ter | |
| XM_011535119.1:c.3346C>T | XP_011533421.1:p.Gln1116Ter | |
| XM_011535120.1:c.3115C>T | XP_011533422.1:p.Gln1039Ter | |
| XM_011535121.1:c.3016C>T | XP_011533423.1:p.Gln1006Ter | |
| XM_011535122.1:c.2197C>T | XP_011533424.1:p.Gln733Ter | |
| XR_941601.1:n.3748C>T | ||
| XR_941602.1:n.3748C>T | ||
| XR_941603.1:n.3748C>T | ||
| XR_941604.1:n.3748C>T | ||
| NM_001330578.1:c.3295C>T | NP_001317507.1:p.Gln1099Ter | |
| NM_001330579.1:c.3277C>T | NP_001317508.1:p.Gln1093Ter | |
| XM_005266424.4:c.3433C>T | XP_005266481.1:p.Gln1145Ter | |
| XM_005266430.4:c.3529C>T | XP_005266487.1:p.Gln1177Ter | |
| XM_005266431.4:c.3493C>T | XP_005266488.1:p.Gln1165Ter | |
| XM_006719837.3:c.3433C>T | XP_006719900.1:p.Gln1145Ter | |
| XM_011535117.3:c.3433C>T | XP_011533419.1:p.Gln1145Ter | |
| XM_017020627.1:c.3433C>T | XP_016876116.1:p.Gln1145Ter | |
| NM_000053.4:c.3529C>T MANE Select | NP_000044.2:p.Gln1177Ter | |
| NM_001005918.3:c.2908C>T | NP_001005918.1:p.Gln970Ter | |
| NM_001330579.2:c.3277C>T | NP_001317508.1:p.Gln1093Ter | |
| NM_001243182.2:c.3196C>T | NP_001230111.1:p.Gln1066Ter | |
| NM_001330578.2:c.3295C>T | NP_001317507.1:p.Gln1099Ter |