Linked Data
ClinVar Variation Id:
555617
dbSNP Id:
rs758025913
ExAC:
13:52513297 C / T
gnomAD v2:
13-52513297-C-T
gnomAD v3:
13-51939161-C-T
gnomAD v4:
13-51939161-C-T
COSMIC:
COSM4664512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51939161C>T , CM000675.2:g.51939161C>T | GRCh38 |
| NC_000013.10:g.52513297C>T , CM000675.1:g.52513297C>T | GRCh37 |
| NC_000013.9:g.51411298C>T | NCBI36 |
| NG_008806.1:g.77334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1239G>A | ENSP00000489512.2:n.*1239G>A | |
| ENST00000673864.2:c.*2333G>A | ENSP00000501045.2:n.*2333G>A | |
| ENST00000674147.2:c.2968G>A | ENSP00000500964.2:p.Ala990Thr | |
| ENST00000242839.10:c.3589G>A MANE Select | ENSP00000242839.5:p.Ala1197Thr | |
| ENST00000344297.9:c.2968G>A | ENSP00000342559.5:p.Ala990Thr | |
| ENST00000400366.6:c.3256G>A | ENSP00000383217.3:p.Ala1086Thr | |
| ENST00000448424.7:c.3337G>A | ENSP00000416738.3:p.Ala1113Thr | |
| ENST00000673696.1:n.830G>A | ||
| ENST00000673772.1:c.3355G>A | ENSP00000501168.1:p.Ala1119Thr | |
| ENST00000673867.1:n.3728G>A | ||
| ENST00000673923.1:n.455G>A | ||
| ENST00000674147.1:c.2524G>A | ENSP00000500964.1:p.Ala842Thr | |
| ENST00000242839.8:c.3589G>A | ENSP00000242839.4:p.Ala1197Thr | |
| ENST00000344297.8:c.2968G>A | ENSP00000342559.5:p.Ala990Thr | |
| ENST00000400366.5:c.3256G>A | ENSP00000383217.3:p.Ala1086Thr | |
| ENST00000400370.8:c.2299G>A | ENSP00000383221.3:p.Ala767Thr | |
| ENST00000418097.7:c.3394G>A | ENSP00000393343.2:p.Ala1132Thr | |
| ENST00000448424.6:c.3355G>A | ENSP00000416738.2:p.Ala1119Thr | |
| ENST00000634296.1:c.1367G>A | ||
| ENST00000634308.1:c.*690G>A | ENSP00000489234.1:n.*690G>A | |
| ENST00000634620.1:n.4333G>A | ||
| ENST00000634810.1:n.2934G>A | ||
| ENST00000634844.1:c.3445G>A | ENSP00000489398.1:p.Ala1149Thr | |
| NM_000053.3:c.3589G>A | NP_000044.2:p.Ala1197Thr | |
| NM_001005918.2:c.2968G>A | NP_001005918.1:p.Ala990Thr | |
| NM_001243182.1:c.3256G>A | NP_001230111.1:p.Ala1086Thr | |
| XM_005266423.2:c.3493G>A | XP_005266480.1:p.Ala1165Thr | |
| XM_005266424.3:c.3493G>A | XP_005266481.1:p.Ala1165Thr | |
| XM_005266427.2:c.3355G>A | XP_005266484.1:p.Ala1119Thr | |
| XM_005266428.1:c.3337G>A | XP_005266485.1:p.Ala1113Thr | |
| XM_005266430.3:c.3589G>A | XP_005266487.1:p.Ala1197Thr | |
| XM_005266431.2:c.3553G>A | XP_005266488.1:p.Ala1185Thr | |
| XM_005266432.2:c.3103G>A | XP_005266489.1:p.Ala1035Thr | |
| XM_006719837.2:c.3493G>A | XP_006719900.1:p.Ala1165Thr | |
| XM_006719838.1:c.1405G>A | XP_006719901.1:p.Ala469Thr | |
| XM_006719839.1:c.1222G>A | XP_006719902.1:p.Ala408Thr | |
| XM_011535117.1:c.3493G>A | XP_011533419.1:p.Ala1165Thr | |
| XM_011535118.1:c.3454G>A | XP_011533420.1:p.Ala1152Thr | |
| XM_011535119.1:c.3406G>A | XP_011533421.1:p.Ala1136Thr | |
| XM_011535120.1:c.3175G>A | XP_011533422.1:p.Ala1059Thr | |
| XM_011535121.1:c.3076G>A | XP_011533423.1:p.Ala1026Thr | |
| XM_011535122.1:c.2257G>A | XP_011533424.1:p.Ala753Thr | |
| XR_941601.1:n.3808G>A | ||
| XR_941602.1:n.3808G>A | ||
| XR_941603.1:n.3808G>A | ||
| XR_941604.1:n.3808G>A | ||
| NM_001330578.1:c.3355G>A | NP_001317507.1:p.Ala1119Thr | |
| NM_001330579.1:c.3337G>A | NP_001317508.1:p.Ala1113Thr | |
| XM_005266424.4:c.3493G>A | XP_005266481.1:p.Ala1165Thr | |
| XM_005266430.4:c.3589G>A | XP_005266487.1:p.Ala1197Thr | |
| XM_005266431.4:c.3553G>A | XP_005266488.1:p.Ala1185Thr | |
| XM_006719837.3:c.3493G>A | XP_006719900.1:p.Ala1165Thr | |
| XM_011535117.3:c.3493G>A | XP_011533419.1:p.Ala1165Thr | |
| XM_017020627.1:c.3493G>A | XP_016876116.1:p.Ala1165Thr | |
| NM_000053.4:c.3589G>A MANE Select | NP_000044.2:p.Ala1197Thr | |
| NM_001005918.3:c.2968G>A | NP_001005918.1:p.Ala990Thr | |
| NM_001330579.2:c.3337G>A | NP_001317508.1:p.Ala1113Thr | |
| NM_001243182.2:c.3256G>A | NP_001230111.1:p.Ala1086Thr | |
| NM_001330578.2:c.3355G>A | NP_001317507.1:p.Ala1119Thr |