Linked Data
ClinVar Variation Id:
158419
dbSNP Id:
rs142473303
ExAC:
2:242681922 C / T
gnomAD v2:
2-242681922-C-T
gnomAD v3:
2-241742507-C-T
gnomAD v4:
2-241742507-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241742507C>T , CM000664.2:g.241742507C>T | GRCh38 |
| NC_000002.11:g.242681922C>T , CM000664.1:g.242681922C>T | GRCh37 |
| NC_000002.10:g.242330595C>T | NCBI36 |
| NG_012012.1:g.12893C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321264.9:c.423C>T MANE Select | ENSP00000315351.4:p.Pro141= | |
| ENST00000321264.8:c.423C>T | ENSP00000315351.4:p.Pro141= | |
| ENST00000400769.6:c.423C>T | ENSP00000383580.2:p.Pro141= | |
| ENST00000403782.5:c.21C>T | ENSP00000384723.1:p.Pro7= | |
| ENST00000436747.5:c.423C>T | ENSP00000400212.1:p.Pro141= | |
| ENST00000437164.1:c.75C>T | ENSP00000412511.1:p.Pro25= | |
| ENST00000454048.1:c.33C>T | ENSP00000404596.1:p.Pro11= | |
| NM_001287249.1:c.21C>T | NP_001274178.1:p.Pro7= | |
| NM_152783.4:c.423C>T | NP_689996.4:p.Pro141= | |
| NR_109778.1:n.632C>T | ||
| XM_011511734.1:c.423C>T | XP_011510036.1:p.Pro141= | |
| XM_011511735.1:c.423C>T | XP_011510037.1:p.Pro141= | |
| XM_011511736.1:c.423C>T | XP_011510038.1:p.Pro141= | |
| XM_011511737.1:c.423C>T | XP_011510039.1:p.Pro141= | |
| XM_011511738.1:c.423C>T | XP_011510040.1:p.Pro141= | |
| XM_011511739.1:c.423C>T | XP_011510041.1:p.Pro141= | |
| XM_011511740.1:c.423C>T | XP_011510042.1:p.Pro141= | |
| XM_011511741.1:c.423C>T | XP_011510043.1:p.Pro141= | |
| XM_011511742.1:c.423C>T | XP_011510044.1:p.Pro141= | |
| XM_011511743.1:c.423C>T | XP_011510045.1:p.Pro141= | |
| XM_011511744.1:c.423C>T | XP_011510046.1:p.Pro141= | |
| XM_011511745.1:c.423C>T | XP_011510047.1:p.Pro141= | |
| XM_011511746.1:c.423C>T | XP_011510048.1:p.Pro141= | |
| XM_011511747.1:c.423C>T | XP_011510049.1:p.Pro141= | |
| XM_011511748.1:c.423C>T | XP_011510050.1:p.Pro141= | |
| XM_011511749.1:c.423C>T | XP_011510051.1:p.Pro141= | |
| XM_011511750.1:c.423C>T | XP_011510052.1:p.Pro141= | |
| XM_011511751.1:c.423C>T | XP_011510053.1:p.Pro141= | |
| XM_011511752.1:c.423C>T | XP_011510054.1:p.Pro141= | |
| XM_011511753.1:c.423C>T | XP_011510055.1:p.Pro141= | |
| XM_011511754.1:c.-122C>T | XP_011510056.1:n.-122C>T | |
| XM_011511756.1:c.423C>T | XP_011510058.1:p.Pro141= | |
| XM_011511757.1:c.423C>T | XP_011510059.1:p.Pro141= | |
| XM_011511758.1:c.423C>T | XP_011510060.1:p.Pro141= | |
| XM_011511759.1:c.423C>T | XP_011510061.1:p.Pro141= | |
| XM_011511760.1:c.423C>T | XP_011510062.1:p.Pro141= | |
| XR_241434.3:n.583C>T | ||
| XR_923003.1:n.583C>T | ||
| XR_923004.1:n.583C>T | ||
| XR_923005.1:n.583C>T | ||
| XR_923006.1:n.583C>T | ||
| XR_923007.1:n.583C>T | ||
| XR_923008.1:n.583C>T | ||
| XR_923009.1:n.583C>T | ||
| XR_923010.1:n.583C>T | ||
| XR_923011.1:n.583C>T | ||
| XR_923012.1:n.583C>T | ||
| XR_923013.1:n.583C>T | ||
| XR_923014.1:n.583C>T | ||
| XR_923015.1:n.583C>T | ||
| XR_923016.1:n.583C>T | ||
| NM_001352824.1:c.-122C>T | NP_001339753.1:n.-122C>T | |
| XM_011511734.2:c.423C>T | XP_011510036.1:p.Pro141= | |
| XM_011511735.2:c.423C>T | XP_011510037.1:p.Pro141= | |
| XM_011511736.2:c.423C>T | XP_011510038.1:p.Pro141= | |
| XM_011511737.3:c.423C>T | XP_011510039.1:p.Pro141= | |
| XM_011511738.3:c.423C>T | XP_011510040.1:p.Pro141= | |
| XM_011511739.2:c.423C>T | XP_011510041.1:p.Pro141= | |
| XM_011511740.3:c.423C>T | XP_011510042.1:p.Pro141= | |
| XM_011511741.3:c.423C>T | XP_011510043.1:p.Pro141= | |
| XM_011511743.2:c.423C>T | XP_011510045.1:p.Pro141= | |
| XM_011511744.2:c.423C>T | XP_011510046.1:p.Pro141= | |
| XM_011511745.3:c.423C>T | XP_011510047.1:p.Pro141= | |
| XM_011511746.3:c.423C>T | XP_011510048.1:p.Pro141= | |
| XM_011511747.3:c.423C>T | XP_011510049.1:p.Pro141= | |
| XM_011511749.3:c.423C>T | XP_011510051.1:p.Pro141= | |
| XM_011511750.3:c.423C>T | XP_011510052.1:p.Pro141= | |
| XM_011511751.2:c.423C>T | XP_011510053.1:p.Pro141= | |
| XM_011511752.2:c.423C>T | XP_011510054.1:p.Pro141= | |
| XM_011511753.3:c.423C>T | XP_011510055.1:p.Pro141= | |
| XM_011511756.2:c.423C>T | XP_011510058.1:p.Pro141= | |
| XM_011511757.3:c.423C>T | XP_011510059.1:p.Pro141= | |
| XM_011511758.3:c.423C>T | XP_011510060.1:p.Pro141= | |
| XM_011511759.3:c.423C>T | XP_011510061.1:p.Pro141= | |
| XM_011511760.3:c.423C>T | XP_011510062.1:p.Pro141= | |
| XM_017004827.2:c.423C>T | XP_016860316.1:p.Pro141= | |
| XM_017004828.2:c.423C>T | XP_016860317.1:p.Pro141= | |
| XM_017004829.2:c.423C>T | XP_016860318.1:p.Pro141= | |
| XM_017004830.2:c.423C>T | XP_016860319.1:p.Pro141= | |
| XM_017004832.2:c.423C>T | XP_016860321.1:p.Pro141= | |
| XM_024453102.1:c.195C>T | XP_024308870.1:p.Pro65= | |
| XM_024453103.1:c.423C>T | XP_024308871.1:p.Pro141= | |
| XR_001738918.2:n.582C>T | ||
| XR_001738919.2:n.582C>T | ||
| XR_002959334.1:n.582C>T | ||
| XR_002959335.1:n.582C>T | ||
| XR_241434.4:n.582C>T | ||
| XR_923004.3:n.582C>T | ||
| XR_923005.2:n.582C>T | ||
| XR_923007.3:n.582C>T | ||
| XR_923009.2:n.582C>T | ||
| XR_923010.2:n.582C>T | ||
| XR_923011.3:n.582C>T | ||
| XR_923012.2:n.582C>T | ||
| XR_923013.2:n.582C>T | ||
| XR_923014.3:n.582C>T | ||
| XR_923015.2:n.582C>T | ||
| XR_923016.3:n.582C>T | ||
| NM_152783.5:c.423C>T MANE Select | NP_689996.4:p.Pro141= | |
| NM_001287249.2:c.21C>T | NP_001274178.1:p.Pro7= | |
| NM_001352824.2:c.-122C>T | NP_001339753.1:n.-122C>T | |
| NR_109778.2:n.581C>T |