Linked Data
ClinVar Variation Id:
188900
dbSNP Id:
rs786204547
gnomAD v2:
13-52515217-C-T
gnomAD v3:
13-51941081-C-T
gnomAD v4:
13-51941081-C-T
COSMIC:
COSM4048033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941081C>T , CM000675.2:g.51941081C>T | GRCh38 |
| NC_000013.10:g.52515217C>T , CM000675.1:g.52515217C>T | GRCh37 |
| NC_000013.9:g.51413218C>T | NCBI36 |
| NG_008806.1:g.75414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1206G>A | ENSP00000489512.2:n.*1206G>A | |
| ENST00000673864.2:c.*2300G>A | ENSP00000501045.2:n.*2300G>A | |
| ENST00000674147.2:c.2935G>A | ENSP00000500964.2:p.Gly979Ser | |
| ENST00000242839.10:c.3556G>A MANE Select | ENSP00000242839.5:p.Gly1186Ser | |
| ENST00000344297.9:c.2935G>A | ENSP00000342559.5:p.Gly979Ser | |
| ENST00000400366.6:c.3223G>A | ENSP00000383217.3:p.Gly1075Ser | |
| ENST00000448424.7:c.3304G>A | ENSP00000416738.3:p.Gly1102Ser | |
| ENST00000673772.1:c.3322G>A | ENSP00000501168.1:p.Gly1108Ser | |
| ENST00000673867.1:n.3695G>A | ||
| ENST00000674126.1:n.3919G>A | ||
| ENST00000674147.1:c.2491G>A | ENSP00000500964.1:p.Gly831Ser | |
| ENST00000242839.8:c.3556G>A | ENSP00000242839.4:p.Gly1186Ser | |
| ENST00000344297.8:c.2935G>A | ENSP00000342559.5:p.Gly979Ser | |
| ENST00000400366.5:c.3223G>A | ENSP00000383217.3:p.Gly1075Ser | |
| ENST00000400370.8:c.2266G>A | ENSP00000383221.3:p.Gly756Ser | |
| ENST00000418097.7:c.3361G>A | ENSP00000393343.2:p.Gly1121Ser | |
| ENST00000448424.6:c.3322G>A | ENSP00000416738.2:p.Gly1108Ser | |
| ENST00000634296.1:c.1334G>A | ||
| ENST00000634308.1:c.*657G>A | ENSP00000489234.1:n.*657G>A | |
| ENST00000634620.1:n.4300G>A | ||
| ENST00000634810.1:n.2901G>A | ||
| ENST00000634844.1:c.3412G>A | ENSP00000489398.1:p.Gly1138Ser | |
| NM_000053.3:c.3556G>A | NP_000044.2:p.Gly1186Ser | |
| NM_001005918.2:c.2935G>A | NP_001005918.1:p.Gly979Ser | |
| NM_001243182.1:c.3223G>A | NP_001230111.1:p.Gly1075Ser | |
| XM_005266423.2:c.3460G>A | XP_005266480.1:p.Gly1154Ser | |
| XM_005266424.3:c.3460G>A | XP_005266481.1:p.Gly1154Ser | |
| XM_005266427.2:c.3322G>A | XP_005266484.1:p.Gly1108Ser | |
| XM_005266428.1:c.3304G>A | XP_005266485.1:p.Gly1102Ser | |
| XM_005266430.3:c.3556G>A | XP_005266487.1:p.Gly1186Ser | |
| XM_005266431.2:c.3520G>A | XP_005266488.1:p.Gly1174Ser | |
| XM_005266432.2:c.3070G>A | XP_005266489.1:p.Gly1024Ser | |
| XM_006719837.2:c.3460G>A | XP_006719900.1:p.Gly1154Ser | |
| XM_006719838.1:c.1372G>A | XP_006719901.1:p.Gly458Ser | |
| XM_006719839.1:c.1189G>A | XP_006719902.1:p.Gly397Ser | |
| XM_011535117.1:c.3460G>A | XP_011533419.1:p.Gly1154Ser | |
| XM_011535118.1:c.3421G>A | XP_011533420.1:p.Gly1141Ser | |
| XM_011535119.1:c.3373G>A | XP_011533421.1:p.Gly1125Ser | |
| XM_011535120.1:c.3142G>A | XP_011533422.1:p.Gly1048Ser | |
| XM_011535121.1:c.3043G>A | XP_011533423.1:p.Gly1015Ser | |
| XM_011535122.1:c.2224G>A | XP_011533424.1:p.Gly742Ser | |
| XR_941601.1:n.3775G>A | ||
| XR_941602.1:n.3775G>A | ||
| XR_941603.1:n.3775G>A | ||
| XR_941604.1:n.3775G>A | ||
| NM_001330578.1:c.3322G>A | NP_001317507.1:p.Gly1108Ser | |
| NM_001330579.1:c.3304G>A | NP_001317508.1:p.Gly1102Ser | |
| XM_005266424.4:c.3460G>A | XP_005266481.1:p.Gly1154Ser | |
| XM_005266430.4:c.3556G>A | XP_005266487.1:p.Gly1186Ser | |
| XM_005266431.4:c.3520G>A | XP_005266488.1:p.Gly1174Ser | |
| XM_006719837.3:c.3460G>A | XP_006719900.1:p.Gly1154Ser | |
| XM_011535117.3:c.3460G>A | XP_011533419.1:p.Gly1154Ser | |
| XM_017020627.1:c.3460G>A | XP_016876116.1:p.Gly1154Ser | |
| NM_000053.4:c.3556G>A MANE Select | NP_000044.2:p.Gly1186Ser | |
| NM_001005918.3:c.2935G>A | NP_001005918.1:p.Gly979Ser | |
| NM_001330579.2:c.3304G>A | NP_001317508.1:p.Gly1102Ser | |
| NM_001243182.2:c.3223G>A | NP_001230111.1:p.Gly1075Ser | |
| NM_001330578.2:c.3322G>A | NP_001317507.1:p.Gly1108Ser |