Linked Data
ClinVar Variation Id:
881760
ClinVar RCV Id:
RCV001110984
dbSNP Id:
rs753044473
gnomAD v2:
13-52511623-C-T
gnomAD v3:
13-51937487-C-T
gnomAD v4:
13-51937487-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937487C>T , CM000675.2:g.51937487C>T | GRCh38 |
| NC_000013.10:g.52511623C>T , CM000675.1:g.52511623C>T | GRCh37 |
| NC_000013.9:g.51409624C>T | NCBI36 |
| NG_008806.1:g.79008G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1542G>A | ENSP00000489512.2:n.*1542G>A | |
| ENST00000673864.2:c.*2636G>A | ENSP00000501045.2:n.*2636G>A | |
| ENST00000674147.2:c.3271G>A | ENSP00000500964.2:p.Val1091Ile | |
| ENST00000242839.10:c.3892G>A MANE Select | ENSP00000242839.5:p.Val1298Ile | |
| ENST00000344297.9:c.3271G>A | ENSP00000342559.5:p.Val1091Ile | |
| ENST00000400366.6:c.3559G>A | ENSP00000383217.3:p.Val1187Ile | |
| ENST00000448424.7:c.3640G>A | ENSP00000416738.3:p.Val1214Ile | |
| ENST00000673696.1:n.1133G>A | ||
| ENST00000673772.1:c.3658G>A | ENSP00000501168.1:p.Val1220Ile | |
| ENST00000673867.1:n.4031G>A | ||
| ENST00000673923.1:n.758G>A | ||
| ENST00000674147.1:c.2827G>A | ENSP00000500964.1:p.Val943Ile | |
| ENST00000242839.8:c.3892G>A | ENSP00000242839.4:p.Val1298Ile | |
| ENST00000344297.8:c.3271G>A | ENSP00000342559.5:p.Val1091Ile | |
| ENST00000400366.5:c.3559G>A | ENSP00000383217.3:p.Val1187Ile | |
| ENST00000400370.8:c.2602G>A | ENSP00000383221.3:p.Val868Ile | |
| ENST00000418097.7:c.3697G>A | ENSP00000393343.2:p.Val1233Ile | |
| ENST00000448424.6:c.3658G>A | ENSP00000416738.2:p.Val1220Ile | |
| ENST00000634296.1:c.1670G>A | ||
| ENST00000634308.1:c.*993G>A | ENSP00000489234.1:n.*993G>A | |
| ENST00000634620.1:n.4636G>A | ||
| ENST00000634810.1:n.3237G>A | ||
| ENST00000634844.1:c.3748G>A | ENSP00000489398.1:p.Val1250Ile | |
| NM_000053.3:c.3892G>A | NP_000044.2:p.Val1298Ile | |
| NM_001005918.2:c.3271G>A | NP_001005918.1:p.Val1091Ile | |
| NM_001243182.1:c.3559G>A | NP_001230111.1:p.Val1187Ile | |
| XM_005266423.2:c.3796G>A | XP_005266480.1:p.Val1266Ile | |
| XM_005266424.3:c.3796G>A | XP_005266481.1:p.Val1266Ile | |
| XM_005266427.2:c.3658G>A | XP_005266484.1:p.Val1220Ile | |
| XM_005266428.1:c.3640G>A | XP_005266485.1:p.Val1214Ile | |
| XM_005266430.3:c.3892G>A | XP_005266487.1:p.Val1298Ile | |
| XM_005266431.2:c.3856G>A | XP_005266488.1:p.Val1286Ile | |
| XM_005266432.2:c.3406G>A | XP_005266489.1:p.Val1136Ile | |
| XM_006719837.2:c.3796G>A | XP_006719900.1:p.Val1266Ile | |
| XM_006719838.1:c.1708G>A | XP_006719901.1:p.Val570Ile | |
| XM_006719839.1:c.1525G>A | XP_006719902.1:p.Val509Ile | |
| XM_011535117.1:c.3796G>A | XP_011533419.1:p.Val1266Ile | |
| XM_011535118.1:c.3757G>A | XP_011533420.1:p.Val1253Ile | |
| XM_011535119.1:c.3709G>A | XP_011533421.1:p.Val1237Ile | |
| XM_011535120.1:c.3478G>A | XP_011533422.1:p.Val1160Ile | |
| XM_011535121.1:c.3379G>A | XP_011533423.1:p.Val1127Ile | |
| XM_011535122.1:c.2560G>A | XP_011533424.1:p.Val854Ile | |
| XR_941601.1:n.4111G>A | ||
| XR_941602.1:n.4111G>A | ||
| XR_941603.1:n.4111G>A | ||
| XR_941604.1:n.4111G>A | ||
| NM_001330578.1:c.3658G>A | NP_001317507.1:p.Val1220Ile | |
| NM_001330579.1:c.3640G>A | NP_001317508.1:p.Val1214Ile | |
| XM_005266424.4:c.3796G>A | XP_005266481.1:p.Val1266Ile | |
| XM_005266430.4:c.3892G>A | XP_005266487.1:p.Val1298Ile | |
| XM_005266431.4:c.3856G>A | XP_005266488.1:p.Val1286Ile | |
| XM_006719837.3:c.3796G>A | XP_006719900.1:p.Val1266Ile | |
| XM_011535117.3:c.3796G>A | XP_011533419.1:p.Val1266Ile | |
| XM_017020627.1:c.3796G>A | XP_016876116.1:p.Val1266Ile | |
| NM_000053.4:c.3892G>A MANE Select | NP_000044.2:p.Val1298Ile | |
| NM_001005918.3:c.3271G>A | NP_001005918.1:p.Val1091Ile | |
| NM_001330579.2:c.3640G>A | NP_001317508.1:p.Val1214Ile | |
| NM_001243182.2:c.3559G>A | NP_001230111.1:p.Val1187Ile | |
| NM_001330578.2:c.3658G>A | NP_001317507.1:p.Val1220Ile |