Linked Data
dbSNP Id:
rs1232743150
gnomAD v2:
2-242690668-G-A
gnomAD v3:
2-241751253-G-A
gnomAD v4:
2-241751253-G-A
COSMIC:
COSM4644429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751253G>A , CM000664.2:g.241751253G>A | GRCh38 |
| NC_000002.11:g.242690668G>A , CM000664.1:g.242690668G>A | GRCh37 |
| NC_000002.10:g.242339341G>A | NCBI36 |
| NG_012012.1:g.21639G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1005G>A MANE Select | ENSP00000315351.4:p.Pro335= | |
| ENST00000321264.8:c.1005G>A | ENSP00000315351.4:p.Pro335= | |
| ENST00000400769.6:c.854-4596G>A | ENSP00000383580.2:n.854-4596G>A | |
| ENST00000403782.5:c.603G>A | ENSP00000384723.1:p.Pro201= | |
| ENST00000432449.1:c.265G>A | ||
| ENST00000436747.5:c.*1321G>A | ENSP00000400212.1:n.*1321G>A | |
| ENST00000454048.1:c.108G>A | ENSP00000404596.1:p.Pro36= | |
| ENST00000467427.5:n.389+959G>A | ||
| ENST00000470343.5:n.486G>A | ||
| ENST00000473126.1:n.204G>A | ||
| ENST00000486953.5:n.163+959G>A | ||
| ENST00000496252.5:n.360G>A | ||
| NM_001287249.1:c.603G>A | NP_001274178.1:p.Pro201= | |
| NM_152783.4:c.1005G>A | NP_689996.4:p.Pro335= | |
| NR_109778.1:n.1063-4596G>A | ||
| XM_011511734.1:c.1083G>A | XP_011510036.1:p.Pro361= | |
| XM_011511735.1:c.1083G>A | XP_011510037.1:p.Pro361= | |
| XM_011511736.1:c.1005G>A | XP_011510038.1:p.Pro335= | |
| XM_011511737.1:c.1083G>A | XP_011510039.1:p.Pro361= | |
| XM_011511742.1:c.1220G>A | XP_011510044.1:p.Arg407His | |
| XM_011511743.1:c.1220G>A | XP_011510045.1:p.Arg407His | |
| XM_011511744.1:c.1220G>A | XP_011510046.1:p.Arg407His | |
| XM_011511745.1:c.1083G>A | XP_011510047.1:p.Pro361= | |
| XM_011511748.1:c.1154G>A | XP_011510050.1:p.Arg385His | |
| XM_011511749.1:c.1179+959G>A | XP_011510051.1:n.1179+959G>A | |
| XM_011511750.1:c.1083G>A | XP_011510052.1:p.Pro361= | |
| XM_011511751.1:c.1212+674G>A | XP_011510053.1:n.1212+674G>A | |
| XM_011511753.1:c.1075+959G>A | XP_011510055.1:n.1075+959G>A | |
| XM_011511754.1:c.522G>A | XP_011510056.1:p.Pro174= | |
| XM_011511755.1:c.513G>A | XP_011510057.1:p.Pro171= | |
| XM_011511756.1:c.853+6376G>A | XP_011510058.1:n.853+6376G>A | |
| XM_011511757.1:c.*21G>A | XP_011510059.1:n.*21G>A | |
| XR_241434.3:n.1344G>A | ||
| XR_923003.1:n.1866G>A | ||
| XR_923004.1:n.1637G>A | ||
| XR_923005.1:n.1380G>A | ||
| XR_923006.1:n.1380G>A | ||
| XR_923007.1:n.1347G>A | ||
| XR_923008.1:n.1243G>A | ||
| XR_923009.1:n.1243G>A | ||
| XR_923010.1:n.1677G>A | ||
| XR_923011.1:n.1448G>A | ||
| XR_923012.1:n.1382G>A | ||
| XR_923014.1:n.1014-4596G>A | ||
| NM_001352824.1:c.444G>A | NP_001339753.1:p.Pro148= | |
| XM_011511734.2:c.1083G>A | XP_011510036.1:p.Pro361= | |
| XM_011511735.2:c.1083G>A | XP_011510037.1:p.Pro361= | |
| XM_011511736.2:c.1005G>A | XP_011510038.1:p.Pro335= | |
| XM_011511737.3:c.1083G>A | XP_011510039.1:p.Pro361= | |
| XM_011511743.2:c.1220G>A | XP_011510045.1:p.Arg407His | |
| XM_011511744.2:c.1220G>A | XP_011510046.1:p.Arg407His | |
| XM_011511745.3:c.1083G>A | XP_011510047.1:p.Pro361= | |
| XM_011511749.3:c.1179+959G>A | XP_011510051.1:n.1179+959G>A | |
| XM_011511750.3:c.1083G>A | XP_011510052.1:p.Pro361= | |
| XM_011511751.2:c.1212+674G>A | XP_011510053.1:n.1212+674G>A | |
| XM_011511753.3:c.1075+959G>A | XP_011510055.1:n.1075+959G>A | |
| XM_011511756.2:c.853+6376G>A | XP_011510058.1:n.853+6376G>A | |
| XM_011511757.3:c.*21G>A | XP_011510059.1:n.*21G>A | |
| XM_017004828.2:c.1005G>A | XP_016860317.1:p.Pro335= | |
| XM_017004829.2:c.1220G>A | XP_016860318.1:p.Arg407His | |
| XM_017004830.2:c.1083G>A | XP_016860319.1:p.Pro361= | |
| XM_024453102.1:c.855G>A | XP_024308870.1:p.Pro285= | |
| XR_001738918.2:n.1379G>A | ||
| XR_001738919.2:n.1313G>A | ||
| XR_002959334.1:n.1865G>A | ||
| XR_002959335.1:n.1509G>A | ||
| XR_241434.4:n.1343G>A | ||
| XR_923004.3:n.1636G>A | ||
| XR_923005.2:n.1379G>A | ||
| XR_923007.3:n.1346G>A | ||
| XR_923009.2:n.1242G>A | ||
| XR_923010.2:n.1676G>A | ||
| XR_923011.3:n.1447G>A | ||
| XR_923012.2:n.1381G>A | ||
| XR_923014.3:n.1013-4596G>A | ||
| NM_152783.5:c.1005G>A MANE Select | NP_689996.4:p.Pro335= | |
| NM_001287249.2:c.603G>A | NP_001274178.1:p.Pro201= | |
| NM_001352824.2:c.444G>A | NP_001339753.1:p.Pro148= | |
| NR_109778.2:n.1012-4596G>A |