Linked Data
ClinVar Variation Id:
755711
ClinVar RCV Id:
RCV001414948
dbSNP Id:
rs772616533
ExAC:
13:52511627 G / A
gnomAD v2:
13-52511627-G-A
gnomAD v3:
13-51937491-G-A
gnomAD v4:
13-51937491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937491G>A , CM000675.2:g.51937491G>A | GRCh38 |
| NC_000013.10:g.52511627G>A , CM000675.1:g.52511627G>A | GRCh37 |
| NC_000013.9:g.51409628G>A | NCBI36 |
| NG_008806.1:g.79004C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1538C>T | ENSP00000489512.2:n.*1538C>T | |
| ENST00000673864.2:c.*2632C>T | ENSP00000501045.2:n.*2632C>T | |
| ENST00000674147.2:c.3267C>T | ENSP00000500964.2:p.Asp1089= | |
| ENST00000242839.10:c.3888C>T MANE Select | ENSP00000242839.5:p.Asp1296= | |
| ENST00000344297.9:c.3267C>T | ENSP00000342559.5:p.Asp1089= | |
| ENST00000400366.6:c.3555C>T | ENSP00000383217.3:p.Asp1185= | |
| ENST00000448424.7:c.3636C>T | ENSP00000416738.3:p.Asp1212= | |
| ENST00000673696.1:n.1129C>T | ||
| ENST00000673772.1:c.3654C>T | ENSP00000501168.1:p.Asp1218= | |
| ENST00000673867.1:n.4027C>T | ||
| ENST00000673923.1:n.754C>T | ||
| ENST00000674147.1:c.2823C>T | ENSP00000500964.1:p.Asp941= | |
| ENST00000242839.8:c.3888C>T | ENSP00000242839.4:p.Asp1296= | |
| ENST00000344297.8:c.3267C>T | ENSP00000342559.5:p.Asp1089= | |
| ENST00000400366.5:c.3555C>T | ENSP00000383217.3:p.Asp1185= | |
| ENST00000400370.8:c.2598C>T | ENSP00000383221.3:p.Asp866= | |
| ENST00000418097.7:c.3693C>T | ENSP00000393343.2:p.Asp1231= | |
| ENST00000448424.6:c.3654C>T | ENSP00000416738.2:p.Asp1218= | |
| ENST00000634296.1:c.1666C>T | ||
| ENST00000634308.1:c.*989C>T | ENSP00000489234.1:n.*989C>T | |
| ENST00000634620.1:n.4632C>T | ||
| ENST00000634810.1:n.3233C>T | ||
| ENST00000634844.1:c.3744C>T | ENSP00000489398.1:p.Asp1248= | |
| NM_000053.3:c.3888C>T | NP_000044.2:p.Asp1296= | |
| NM_001005918.2:c.3267C>T | NP_001005918.1:p.Asp1089= | |
| NM_001243182.1:c.3555C>T | NP_001230111.1:p.Asp1185= | |
| XM_005266423.2:c.3792C>T | XP_005266480.1:p.Asp1264= | |
| XM_005266424.3:c.3792C>T | XP_005266481.1:p.Asp1264= | |
| XM_005266427.2:c.3654C>T | XP_005266484.1:p.Asp1218= | |
| XM_005266428.1:c.3636C>T | XP_005266485.1:p.Asp1212= | |
| XM_005266430.3:c.3888C>T | XP_005266487.1:p.Asp1296= | |
| XM_005266431.2:c.3852C>T | XP_005266488.1:p.Asp1284= | |
| XM_005266432.2:c.3402C>T | XP_005266489.1:p.Asp1134= | |
| XM_006719837.2:c.3792C>T | XP_006719900.1:p.Asp1264= | |
| XM_006719838.1:c.1704C>T | XP_006719901.1:p.Asp568= | |
| XM_006719839.1:c.1521C>T | XP_006719902.1:p.Asp507= | |
| XM_011535117.1:c.3792C>T | XP_011533419.1:p.Asp1264= | |
| XM_011535118.1:c.3753C>T | XP_011533420.1:p.Asp1251= | |
| XM_011535119.1:c.3705C>T | XP_011533421.1:p.Asp1235= | |
| XM_011535120.1:c.3474C>T | XP_011533422.1:p.Asp1158= | |
| XM_011535121.1:c.3375C>T | XP_011533423.1:p.Asp1125= | |
| XM_011535122.1:c.2556C>T | XP_011533424.1:p.Asp852= | |
| XR_941601.1:n.4107C>T | ||
| XR_941602.1:n.4107C>T | ||
| XR_941603.1:n.4107C>T | ||
| XR_941604.1:n.4107C>T | ||
| NM_001330578.1:c.3654C>T | NP_001317507.1:p.Asp1218= | |
| NM_001330579.1:c.3636C>T | NP_001317508.1:p.Asp1212= | |
| XM_005266424.4:c.3792C>T | XP_005266481.1:p.Asp1264= | |
| XM_005266430.4:c.3888C>T | XP_005266487.1:p.Asp1296= | |
| XM_005266431.4:c.3852C>T | XP_005266488.1:p.Asp1284= | |
| XM_006719837.3:c.3792C>T | XP_006719900.1:p.Asp1264= | |
| XM_011535117.3:c.3792C>T | XP_011533419.1:p.Asp1264= | |
| XM_017020627.1:c.3792C>T | XP_016876116.1:p.Asp1264= | |
| NM_000053.4:c.3888C>T MANE Select | NP_000044.2:p.Asp1296= | |
| NM_001005918.3:c.3267C>T | NP_001005918.1:p.Asp1089= | |
| NM_001330579.2:c.3636C>T | NP_001317508.1:p.Asp1212= | |
| NM_001243182.2:c.3555C>T | NP_001230111.1:p.Asp1185= | |
| NM_001330578.2:c.3654C>T | NP_001317507.1:p.Asp1218= |