Linked Data
ClinVar Variation Id:
158410
dbSNP Id:
rs146578303
ExAC:
2:242695399 G / A
gnomAD v2:
2-242695399-G-A
gnomAD v3:
2-241755984-G-A
gnomAD v4:
2-241755984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241755984G>A , CM000664.2:g.241755984G>A | GRCh38 |
| NC_000002.11:g.242695399G>A , CM000664.1:g.242695399G>A | GRCh37 |
| NC_000002.10:g.242344072G>A | NCBI36 |
| NG_012012.1:g.26370G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.1276G>A MANE Select | ENSP00000315351.4:p.Ala426Thr | |
| ENST00000321264.8:c.1276G>A | ENSP00000315351.4:p.Ala426Thr | |
| ENST00000400769.6:c.*26G>A | ENSP00000383580.2:n.*26G>A | |
| ENST00000403782.5:c.874G>A | ENSP00000384723.1:p.Ala292Thr | |
| ENST00000432449.1:c.536G>A | ||
| ENST00000436747.5:c.*2512G>A | ENSP00000400212.1:n.*2512G>A | |
| ENST00000445308.1:c.672G>A | ||
| ENST00000468064.5:n.1166G>A | ||
| ENST00000470343.5:n.757G>A | ||
| ENST00000473126.1:n.475G>A | ||
| ENST00000486953.5:n.1103G>A | ||
| ENST00000610344.1:c.*120G>A | ENSP00000481906.1:n.*120G>A | |
| NM_001287249.1:c.874G>A | NP_001274178.1:p.Ala292Thr | |
| NM_152783.4:c.1276G>A | NP_689996.4:p.Ala426Thr | |
| NR_109778.1:n.1198G>A | ||
| XM_011511734.1:c.1354G>A | XP_011510036.1:p.Ala452Thr | |
| XM_011511735.1:c.1354G>A | XP_011510037.1:p.Ala452Thr | |
| XM_011511736.1:c.1276G>A | XP_011510038.1:p.Ala426Thr | |
| XM_011511737.1:c.1354G>A | XP_011510039.1:p.Ala452Thr | |
| XM_011511744.1:c.*38+4596G>A | XP_011510046.1:n.*38+4596G>A | |
| XM_011511750.1:c.1218+4596G>A | XP_011510052.1:n.1218+4596G>A | |
| XM_011511754.1:c.793G>A | XP_011510056.1:p.Ala265Thr | |
| XM_011511755.1:c.784G>A | XP_011510057.1:p.Ala262Thr | |
| XM_011511756.1:c.853+11107G>A | XP_011510058.1:n.853+11107G>A | |
| XR_923004.1:n.1908G>A | ||
| XR_923007.1:n.1618G>A | ||
| XR_923011.1:n.1719G>A | ||
| XR_923014.1:n.1149G>A | ||
| NM_001352824.1:c.715G>A | NP_001339753.1:p.Ala239Thr | |
| XM_011511734.2:c.1354G>A | XP_011510036.1:p.Ala452Thr | |
| XM_011511735.2:c.1354G>A | XP_011510037.1:p.Ala452Thr | |
| XM_011511736.2:c.1276G>A | XP_011510038.1:p.Ala426Thr | |
| XM_011511737.3:c.1354G>A | XP_011510039.1:p.Ala452Thr | |
| XM_011511744.2:c.*38+4596G>A | XP_011510046.1:n.*38+4596G>A | |
| XM_011511750.3:c.1218+4596G>A | XP_011510052.1:n.1218+4596G>A | |
| XM_011511756.2:c.853+11107G>A | XP_011510058.1:n.853+11107G>A | |
| XM_017004828.2:c.1276G>A | XP_016860317.1:p.Ala426Thr | |
| XM_024453102.1:c.1126G>A | XP_024308870.1:p.Ala376Thr | |
| XR_001738918.2:n.1650G>A | ||
| XR_001738919.2:n.1584G>A | ||
| XR_923004.3:n.1907G>A | ||
| XR_923007.3:n.1617G>A | ||
| XR_923011.3:n.1718G>A | ||
| XR_923014.3:n.1148G>A | ||
| NM_152783.5:c.1276G>A MANE Select | NP_689996.4:p.Ala426Thr | |
| NM_001287249.2:c.874G>A | NP_001274178.1:p.Ala292Thr | |
| NM_001352824.2:c.715G>A | NP_001339753.1:p.Ala239Thr | |
| NR_109778.2:n.1147G>A |