Linked Data
ClinVar Variation Id:
158409
dbSNP Id:
rs149504235
ExAC:
2:242695381 G / A
gnomAD v2:
2-242695381-G-A
gnomAD v3:
2-241755966-G-A
gnomAD v4:
2-241755966-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241755966G>A , CM000664.2:g.241755966G>A | GRCh38 |
| NC_000002.11:g.242695381G>A , CM000664.1:g.242695381G>A | GRCh37 |
| NC_000002.10:g.242344054G>A | NCBI36 |
| NG_012012.1:g.26352G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.1258G>A MANE Select | ENSP00000315351.4:p.Ala420Thr | |
| ENST00000321264.8:c.1258G>A | ENSP00000315351.4:p.Ala420Thr | |
| ENST00000400769.6:c.*8G>A | ENSP00000383580.2:n.*8G>A | |
| ENST00000403782.5:c.856G>A | ENSP00000384723.1:p.Ala286Thr | |
| ENST00000432449.1:c.518G>A | ||
| ENST00000436747.5:c.*2494G>A | ENSP00000400212.1:n.*2494G>A | |
| ENST00000445308.1:c.654G>A | ||
| ENST00000468064.5:n.1148G>A | ||
| ENST00000470343.5:n.739G>A | ||
| ENST00000473126.1:n.457G>A | ||
| ENST00000486953.5:n.1085G>A | ||
| ENST00000610344.1:c.*102G>A | ENSP00000481906.1:n.*102G>A | |
| NM_001287249.1:c.856G>A | NP_001274178.1:p.Ala286Thr | |
| NM_152783.4:c.1258G>A | NP_689996.4:p.Ala420Thr | |
| NR_109778.1:n.1180G>A | ||
| XM_011511734.1:c.1336G>A | XP_011510036.1:p.Ala446Thr | |
| XM_011511735.1:c.1336G>A | XP_011510037.1:p.Ala446Thr | |
| XM_011511736.1:c.1258G>A | XP_011510038.1:p.Ala420Thr | |
| XM_011511737.1:c.1336G>A | XP_011510039.1:p.Ala446Thr | |
| XM_011511744.1:c.*38+4578G>A | XP_011510046.1:n.*38+4578G>A | |
| XM_011511750.1:c.1218+4578G>A | XP_011510052.1:n.1218+4578G>A | |
| XM_011511754.1:c.775G>A | XP_011510056.1:p.Ala259Thr | |
| XM_011511755.1:c.766G>A | XP_011510057.1:p.Ala256Thr | |
| XM_011511756.1:c.853+11089G>A | XP_011510058.1:n.853+11089G>A | |
| XR_923004.1:n.1890G>A | ||
| XR_923007.1:n.1600G>A | ||
| XR_923011.1:n.1701G>A | ||
| XR_923014.1:n.1131G>A | ||
| NM_001352824.1:c.697G>A | NP_001339753.1:p.Ala233Thr | |
| XM_011511734.2:c.1336G>A | XP_011510036.1:p.Ala446Thr | |
| XM_011511735.2:c.1336G>A | XP_011510037.1:p.Ala446Thr | |
| XM_011511736.2:c.1258G>A | XP_011510038.1:p.Ala420Thr | |
| XM_011511737.3:c.1336G>A | XP_011510039.1:p.Ala446Thr | |
| XM_011511744.2:c.*38+4578G>A | XP_011510046.1:n.*38+4578G>A | |
| XM_011511750.3:c.1218+4578G>A | XP_011510052.1:n.1218+4578G>A | |
| XM_011511756.2:c.853+11089G>A | XP_011510058.1:n.853+11089G>A | |
| XM_017004828.2:c.1258G>A | XP_016860317.1:p.Ala420Thr | |
| XM_024453102.1:c.1108G>A | XP_024308870.1:p.Ala370Thr | |
| XR_001738918.2:n.1632G>A | ||
| XR_001738919.2:n.1566G>A | ||
| XR_923004.3:n.1889G>A | ||
| XR_923007.3:n.1599G>A | ||
| XR_923011.3:n.1700G>A | ||
| XR_923014.3:n.1130G>A | ||
| NM_152783.5:c.1258G>A MANE Select | NP_689996.4:p.Ala420Thr | |
| NM_001287249.2:c.856G>A | NP_001274178.1:p.Ala286Thr | |
| NM_001352824.2:c.697G>A | NP_001339753.1:p.Ala233Thr | |
| NR_109778.2:n.1129G>A |