Linked Data
ClinVar Variation Id:
495414
dbSNP Id:
rs541208827
ExAC:
13:52516618 C / T
gnomAD v2:
13-52516618-C-T
gnomAD v3:
13-51942482-C-T
gnomAD v4:
13-51942482-C-T
COSMIC:
COSM147690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942482C>T , CM000675.2:g.51942482C>T | GRCh38 |
| NC_000013.10:g.52516618C>T , CM000675.1:g.52516618C>T | GRCh37 |
| NC_000013.9:g.51414619C>T | NCBI36 |
| NG_008806.1:g.74013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*966G>A | ENSP00000489512.2:n.*966G>A | |
| ENST00000673864.2:c.*2060G>A | ENSP00000501045.2:n.*2060G>A | |
| ENST00000674147.2:c.2695G>A | ENSP00000500964.2:p.Val899Ile | |
| ENST00000242839.10:c.3316G>A MANE Select | ENSP00000242839.5:p.Val1106Ile | |
| ENST00000344297.9:c.2695G>A | ENSP00000342559.5:p.Val899Ile | |
| ENST00000400366.6:c.2983G>A | ENSP00000383217.3:p.Val995Ile | |
| ENST00000448424.7:c.3064G>A | ENSP00000416738.3:p.Val1022Ile | |
| ENST00000673772.1:c.3082G>A | ENSP00000501168.1:p.Val1028Ile | |
| ENST00000673867.1:n.3455G>A | ||
| ENST00000674126.1:n.3679G>A | ||
| ENST00000674147.1:c.2251G>A | ENSP00000500964.1:p.Val751Ile | |
| ENST00000242839.8:c.3316G>A | ENSP00000242839.4:p.Val1106Ile | |
| ENST00000344297.8:c.2695G>A | ENSP00000342559.5:p.Val899Ile | |
| ENST00000400366.5:c.2983G>A | ENSP00000383217.3:p.Val995Ile | |
| ENST00000400370.8:c.2026G>A | ENSP00000383221.3:p.Val676Ile | |
| ENST00000418097.7:c.3121G>A | ENSP00000393343.2:p.Val1041Ile | |
| ENST00000448424.6:c.3082G>A | ENSP00000416738.2:p.Val1028Ile | |
| ENST00000634296.1:c.1094G>A | ||
| ENST00000634308.1:c.*417G>A | ENSP00000489234.1:n.*417G>A | |
| ENST00000634620.1:n.4060G>A | ||
| ENST00000634810.1:n.2661G>A | ||
| ENST00000634844.1:c.3172G>A | ENSP00000489398.1:p.Val1058Ile | |
| NM_000053.3:c.3316G>A | NP_000044.2:p.Val1106Ile | |
| NM_001005918.2:c.2695G>A | NP_001005918.1:p.Val899Ile | |
| NM_001243182.1:c.2983G>A | NP_001230111.1:p.Val995Ile | |
| XM_005266423.2:c.3220G>A | XP_005266480.1:p.Val1074Ile | |
| XM_005266424.3:c.3220G>A | XP_005266481.1:p.Val1074Ile | |
| XM_005266427.2:c.3082G>A | XP_005266484.1:p.Val1028Ile | |
| XM_005266428.1:c.3064G>A | XP_005266485.1:p.Val1022Ile | |
| XM_005266430.3:c.3316G>A | XP_005266487.1:p.Val1106Ile | |
| XM_005266431.2:c.3280G>A | XP_005266488.1:p.Val1094Ile | |
| XM_005266432.2:c.2830G>A | XP_005266489.1:p.Val944Ile | |
| XM_006719837.2:c.3220G>A | XP_006719900.1:p.Val1074Ile | |
| XM_006719838.1:c.1132G>A | XP_006719901.1:p.Val378Ile | |
| XM_006719839.1:c.949G>A | XP_006719902.1:p.Val317Ile | |
| XM_011535117.1:c.3220G>A | XP_011533419.1:p.Val1074Ile | |
| XM_011535118.1:c.3181G>A | XP_011533420.1:p.Val1061Ile | |
| XM_011535119.1:c.3133G>A | XP_011533421.1:p.Val1045Ile | |
| XM_011535120.1:c.2902G>A | XP_011533422.1:p.Val968Ile | |
| XM_011535121.1:c.2803G>A | XP_011533423.1:p.Val935Ile | |
| XM_011535122.1:c.1984G>A | XP_011533424.1:p.Val662Ile | |
| XR_941601.1:n.3535G>A | ||
| XR_941602.1:n.3535G>A | ||
| XR_941603.1:n.3535G>A | ||
| XR_941604.1:n.3535G>A | ||
| NM_001330578.1:c.3082G>A | NP_001317507.1:p.Val1028Ile | |
| NM_001330579.1:c.3064G>A | NP_001317508.1:p.Val1022Ile | |
| XM_005266424.4:c.3220G>A | XP_005266481.1:p.Val1074Ile | |
| XM_005266430.4:c.3316G>A | XP_005266487.1:p.Val1106Ile | |
| XM_005266431.4:c.3280G>A | XP_005266488.1:p.Val1094Ile | |
| XM_006719837.3:c.3220G>A | XP_006719900.1:p.Val1074Ile | |
| XM_011535117.3:c.3220G>A | XP_011533419.1:p.Val1074Ile | |
| XM_017020627.1:c.3220G>A | XP_016876116.1:p.Val1074Ile | |
| NM_000053.4:c.3316G>A MANE Select | NP_000044.2:p.Val1106Ile | |
| NM_001005918.3:c.2695G>A | NP_001005918.1:p.Val899Ile | |
| NM_001330579.2:c.3064G>A | NP_001317508.1:p.Val1022Ile | |
| NM_001243182.2:c.2983G>A | NP_001230111.1:p.Val995Ile | |
| NM_001330578.2:c.3082G>A | NP_001317507.1:p.Val1028Ile |