Linked Data
ClinVar Variation Id:
157957
dbSNP Id:
rs181250704
ExAC:
13:52509155 G / A
gnomAD v2:
13-52509155-G-A
gnomAD v3:
13-51935019-G-A
gnomAD v4:
13-51935019-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51935019G>A , CM000675.2:g.51935019G>A | GRCh38 |
| NC_000013.10:g.52509155G>A , CM000675.1:g.52509155G>A | GRCh37 |
| NC_000013.9:g.51407156G>A | NCBI36 |
| NG_008806.1:g.81476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1785C>T | ENSP00000489512.2:n.*1785C>T | |
| ENST00000673864.2:c.*2879C>T | ENSP00000501045.2:n.*2879C>T | |
| ENST00000674147.2:c.3514C>T | ENSP00000500964.2:p.Pro1172Ser | |
| ENST00000242839.10:c.4135C>T MANE Select | ENSP00000242839.5:p.Pro1379Ser | |
| ENST00000344297.9:c.3514C>T | ENSP00000342559.5:p.Pro1172Ser | |
| ENST00000400366.6:c.3802C>T | ENSP00000383217.3:p.Pro1268Ser | |
| ENST00000448424.7:c.3883C>T | ENSP00000416738.3:p.Pro1295Ser | |
| ENST00000673696.1:n.1458C>T | ||
| ENST00000673772.1:c.3901C>T | ENSP00000501168.1:p.Pro1301Ser | |
| ENST00000673867.1:n.4274C>T | ||
| ENST00000673923.1:n.1001C>T | ||
| ENST00000674147.1:c.3070C>T | ENSP00000500964.1:p.Pro1024Ser | |
| ENST00000242839.8:c.4135C>T | ENSP00000242839.4:p.Pro1379Ser | |
| ENST00000344297.8:c.3514C>T | ENSP00000342559.5:p.Pro1172Ser | |
| ENST00000400366.5:c.3802C>T | ENSP00000383217.3:p.Pro1268Ser | |
| ENST00000400370.8:c.2845C>T | ENSP00000383221.3:p.Pro949Ser | |
| ENST00000418097.7:c.3940C>T | ENSP00000393343.2:p.Pro1314Ser | |
| ENST00000448424.6:c.3901C>T | ENSP00000416738.2:p.Pro1301Ser | |
| ENST00000634296.1:c.1913C>T | ||
| ENST00000634308.1:c.*1236C>T | ENSP00000489234.1:n.*1236C>T | |
| ENST00000634620.1:n.4879C>T | ||
| ENST00000634810.1:n.3480C>T | ||
| ENST00000634844.1:c.3991C>T | ENSP00000489398.1:p.Pro1331Ser | |
| NM_000053.3:c.4135C>T | NP_000044.2:p.Pro1379Ser | |
| NM_001005918.2:c.3514C>T | NP_001005918.1:p.Pro1172Ser | |
| NM_001243182.1:c.3802C>T | NP_001230111.1:p.Pro1268Ser | |
| XM_005266423.2:c.4039C>T | XP_005266480.1:p.Pro1347Ser | |
| XM_005266424.3:c.4039C>T | XP_005266481.1:p.Pro1347Ser | |
| XM_005266427.2:c.3901C>T | XP_005266484.1:p.Pro1301Ser | |
| XM_005266428.1:c.3883C>T | XP_005266485.1:p.Pro1295Ser | |
| XM_005266430.3:c.4135C>T | XP_005266487.1:p.Pro1379Ser | |
| XM_005266431.2:c.4099C>T | XP_005266488.1:p.Pro1367Ser | |
| XM_005266432.2:c.3649C>T | XP_005266489.1:p.Pro1217Ser | |
| XM_006719837.2:c.4039C>T | XP_006719900.1:p.Pro1347Ser | |
| XM_006719838.1:c.1951C>T | XP_006719901.1:p.Pro651Ser | |
| XM_006719839.1:c.1768C>T | XP_006719902.1:p.Pro590Ser | |
| XM_011535117.1:c.4039C>T | XP_011533419.1:p.Pro1347Ser | |
| XM_011535118.1:c.4000C>T | XP_011533420.1:p.Pro1334Ser | |
| XM_011535119.1:c.3952C>T | XP_011533421.1:p.Pro1318Ser | |
| XM_011535120.1:c.3721C>T | XP_011533422.1:p.Pro1241Ser | |
| XM_011535121.1:c.3622C>T | XP_011533423.1:p.Pro1208Ser | |
| XM_011535122.1:c.2803C>T | XP_011533424.1:p.Pro935Ser | |
| XR_941601.1:n.4354C>T | ||
| XR_941602.1:n.4354C>T | ||
| XR_941603.1:n.4354C>T | ||
| XR_941604.1:n.4354C>T | ||
| NM_001330578.1:c.3901C>T | NP_001317507.1:p.Pro1301Ser | |
| NM_001330579.1:c.3883C>T | NP_001317508.1:p.Pro1295Ser | |
| XM_005266424.4:c.4039C>T | XP_005266481.1:p.Pro1347Ser | |
| XM_005266430.4:c.4135C>T | XP_005266487.1:p.Pro1379Ser | |
| XM_005266431.4:c.4099C>T | XP_005266488.1:p.Pro1367Ser | |
| XM_006719837.3:c.4039C>T | XP_006719900.1:p.Pro1347Ser | |
| XM_011535117.3:c.4039C>T | XP_011533419.1:p.Pro1347Ser | |
| XM_017020627.1:c.4039C>T | XP_016876116.1:p.Pro1347Ser | |
| NM_000053.4:c.4135C>T MANE Select | NP_000044.2:p.Pro1379Ser | |
| NM_001005918.3:c.3514C>T | NP_001005918.1:p.Pro1172Ser | |
| NM_001330579.2:c.3883C>T | NP_001317508.1:p.Pro1295Ser | |
| NM_001243182.2:c.3802C>T | NP_001230111.1:p.Pro1268Ser | |
| NM_001330578.2:c.3901C>T | NP_001317507.1:p.Pro1301Ser |