Linked Data
ClinVar Variation Id:
133970
dbSNP Id:
rs150514959
ExAC:
14:95570180 C / T
gnomAD v2:
14-95570180-C-T
gnomAD v3:
14-95103843-C-T
gnomAD v4:
14-95103843-C-T
ERepo:
CA158273/MONDO:0100216/024
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95103843C>T , CM000676.2:g.95103843C>T | GRCh38 |
| NC_000014.8:g.95570180C>T , CM000676.1:g.95570180C>T | GRCh37 |
| NC_000014.7:g.94639933C>T | NCBI36 |
| NG_016311.1:g.58580G>A , LRG_492:g.58580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529720.2:c.3553G>A | ENSP00000433926.2:p.Ala1185Thr | |
| ENST00000531162.7:c.3553G>A | ENSP00000433060.3:p.Ala1185Thr | |
| ENST00000674628.2:c.3553G>A | ENSP00000502730.2:p.Ala1185Thr | |
| ENST00000675540.2:c.*203G>A | ENSP00000501988.2:n.*203G>A | |
| ENST00000696733.1:c.3553G>A | ENSP00000512838.1:p.Ala1185Thr | |
| ENST00000696734.1:c.3553G>A | ENSP00000512839.1:p.Ala1185Thr | |
| ENST00000696735.1:n.540G>A | ||
| ENST00000696736.1:c.3553G>A | ENSP00000512840.1:p.Ala1185Thr | |
| ENST00000696737.1:c.3553G>A | ENSP00000512841.1:p.Ala1185Thr | |
| ENST00000696738.1:n.1441G>A | ||
| ENST00000696920.1:n.3816G>A | ||
| ENST00000696921.1:n.4659G>A | ||
| ENST00000696922.1:n.3962G>A | ||
| ENST00000696923.1:c.3553G>A | ENSP00000512976.1:p.Ala1185Thr | |
| ENST00000696924.1:c.3553G>A | ENSP00000512977.1:p.Ala1185Thr | |
| ENST00000696925.1:n.3962G>A | ||
| ENST00000696926.1:n.716G>A | ||
| ENST00000343455.8:c.3553G>A MANE Select | ENSP00000343745.3:p.Ala1185Thr | |
| ENST00000393063.6:c.3553G>A | ENSP00000376783.1:p.Ala1185Thr | |
| ENST00000526495.6:c.3553G>A | ENSP00000437256.1:p.Ala1185Thr | |
| ENST00000532939.3:c.3553G>A | ENSP00000452556.2:p.Ala1185Thr | |
| ENST00000556045.6:c.3553G>A | ENSP00000451041.2:p.Ala1185Thr | |
| ENST00000675540.1:c.1298G>A | ENSP00000501988.1:n.1298G>A | |
| ENST00000675995.1:c.*1869G>A | ENSP00000502591.1:n.*1869G>A | |
| ENST00000343455.7:c.3553G>A | ENSP00000343745.3:p.Ala1185Thr | |
| ENST00000393063.5:c.3553G>A | ENSP00000376783.1:p.Ala1185Thr | |
| ENST00000526495.5:c.3553G>A | ENSP00000437256.1:p.Ala1185Thr | |
| ENST00000527414.5:c.3553G>A | ENSP00000435681.1:p.Ala1185Thr | |
| ENST00000541352.5:c.3553G>A | ENSP00000444719.1:p.Ala1185Thr | |
| ENST00000554367.1:n.762G>A | ||
| ENST00000556045.5:c.247G>A | ENSP00000451041.1:p.Ala83Thr | |
| NM_001195573.1:c.3553G>A | NP_001182502.1:p.Ala1185Thr | |
| NM_001271282.2:c.3553G>A | NP_001258211.1:p.Ala1185Thr | |
| NM_001291628.1:c.3553G>A | NP_001278557.1:p.Ala1185Thr | |
| NM_030621.4:c.3553G>A | NP_085124.2:p.Ala1185Thr | |
| NM_177438.2:c.3553G>A , LRG_492t1:c.3553G>A | NP_803187.1:p.Ala1185Thr | |
| XM_011536599.1:c.3553G>A | XP_011534901.1:p.Ala1185Thr | |
| XM_011536600.1:c.3553G>A | XP_011534902.1:p.Ala1185Thr | |
| XM_011536601.1:c.3553G>A | XP_011534903.1:p.Ala1185Thr | |
| XM_011536602.1:c.3553G>A | XP_011534904.1:p.Ala1185Thr | |
| XM_011536603.1:c.3553G>A | XP_011534905.1:p.Ala1185Thr | |
| XM_011536604.1:c.3148G>A | XP_011534906.1:p.Ala1050Thr | |
| XM_011536605.1:c.2074G>A | XP_011534907.1:p.Ala692Thr | |
| XM_011536599.2:c.3553G>A | XP_011534901.1:p.Ala1185Thr | |
| XM_011536600.3:c.3553G>A | XP_011534902.1:p.Ala1185Thr | |
| XM_011536601.3:c.3553G>A | XP_011534903.1:p.Ala1185Thr | |
| XM_011536602.3:c.3553G>A | XP_011534904.1:p.Ala1185Thr | |
| XM_011536604.2:c.3148G>A | XP_011534906.1:p.Ala1050Thr | |
| XM_011536605.2:c.2074G>A | XP_011534907.1:p.Ala692Thr | |
| XM_017021120.2:c.3553G>A | XP_016876609.1:p.Ala1185Thr | |
| XM_017021121.2:c.3553G>A | XP_016876610.1:p.Ala1185Thr | |
| XM_017021122.2:c.3148G>A | XP_016876611.1:p.Ala1050Thr | |
| XM_017021123.2:c.3148G>A | XP_016876612.1:p.Ala1050Thr | |
| NM_001271282.3:c.3553G>A | NP_001258211.1:p.Ala1185Thr | |
| NM_001291628.2:c.3553G>A | NP_001278557.1:p.Ala1185Thr | |
| NM_177438.3:c.3553G>A MANE Select | NP_803187.1:p.Ala1185Thr | |
| NM_001395677.1:c.3553G>A | NP_001382606.1:p.Ala1185Thr | |
| NM_001395678.1:c.3553G>A | NP_001382607.1:p.Ala1185Thr | |
| NM_001395679.1:c.3553G>A | NP_001382608.1:p.Ala1185Thr | |
| NM_001395680.1:c.3553G>A | NP_001382609.1:p.Ala1185Thr | |
| NM_001395682.1:c.3553G>A | NP_001382611.1:p.Ala1185Thr | |
| NM_001395683.1:c.3553G>A | NP_001382612.1:p.Ala1185Thr | |
| NM_001395684.1:c.3553G>A | NP_001382613.1:p.Ala1185Thr | |
| NM_001395685.1:c.3553G>A | NP_001382614.1:p.Ala1185Thr | |
| NM_001395686.1:c.3271G>A | NP_001382615.1:p.Ala1091Thr | |
| NM_001395687.1:c.3148G>A | NP_001382616.1:p.Ala1050Thr | |
| NM_001395688.1:c.3148G>A | NP_001382617.1:p.Ala1050Thr | |
| NM_001395689.1:c.3148G>A | NP_001382618.1:p.Ala1050Thr | |
| NM_001395690.1:c.3148G>A | NP_001382619.1:p.Ala1050Thr | |
| NM_001395691.1:c.2986G>A | NP_001382620.1:p.Ala996Thr | |
| NM_001395692.1:c.3553G>A | NP_001382621.1:p.Ala1185Thr | |
| NM_001395693.1:c.3553G>A | NP_001382622.1:p.Ala1185Thr | |
| NM_001395694.1:c.3553G>A | NP_001382623.1:p.Ala1185Thr | |
| NM_001395695.1:c.3553G>A | NP_001382624.1:p.Ala1185Thr | |
| NM_001395696.1:c.3148G>A | NP_001382625.1:p.Ala1050Thr | |
| NM_001395697.1:c.1870G>A | NP_001382626.1:p.Ala624Thr | |
| NR_172715.1:n.3971G>A | ||
| NR_172716.1:n.4155G>A | ||
| NR_172717.1:n.4065G>A | ||
| NR_172718.1:n.3988G>A | ||
| NR_172719.1:n.3821G>A | ||
| NR_172720.1:n.3898G>A |