Linked Data
ClinVar Variation Id:
418182
dbSNP Id:
rs762928354
ExAC:
4:159606288 C / T
gnomAD v2:
4-159606288-C-T
gnomAD v3:
4-158685136-C-T
gnomAD v4:
4-158685136-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158685136C>T , CM000666.2:g.158685136C>T | GRCh38 |
| NC_000004.11:g.159606288C>T , CM000666.1:g.159606288C>T | GRCh37 |
| NC_000004.10:g.159825738C>T | NCBI36 |
| NG_007078.2:g.17795C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.296C>T | ||
| ENST00000681978.1:n.772C>T | ||
| ENST00000682178.1:n.1555C>T | ||
| ENST00000682345.1:c.*306+463C>T | ENSP00000508122.1:n.*306+463C>T | |
| ENST00000682452.1:n.854C>T | ||
| ENST00000682456.1:c.523C>T | ENSP00000508240.1:p.Arg175Cys | |
| ENST00000682601.1:n.714C>T | ||
| ENST00000682734.1:c.-568+463C>T | ENSP00000507860.1:n.-568+463C>T | |
| ENST00000682820.1:n.560C>T | ||
| ENST00000682910.1:n.830C>T | ||
| ENST00000683004.1:c.*360C>T | ENSP00000506936.1:n.*360C>T | |
| ENST00000683079.1:c.487+463C>T | ENSP00000507296.1:n.487+463C>T | |
| ENST00000683081.1:c.*360C>T | ENSP00000507722.1:n.*360C>T | |
| ENST00000683123.1:n.572C>T | ||
| ENST00000683305.1:c.340C>T | ENSP00000508043.1:p.Arg114Cys | |
| ENST00000683448.1:c.28C>T | ENSP00000506931.1:p.Arg10Cys | |
| ENST00000683478.1:c.487+463C>T | ENSP00000507793.1:n.487+463C>T | |
| ENST00000683483.1:c.523C>T | ENSP00000507719.1:p.Arg175Cys | |
| ENST00000683750.1:n.646C>T | ||
| ENST00000683751.1:c.28C>T | ENSP00000506944.1:p.Arg10Cys | |
| ENST00000684036.1:c.340C>T | ENSP00000507276.1:p.Arg114Cys | |
| ENST00000684129.1:c.-613+463C>T | ENSP00000507174.1:n.-613+463C>T | |
| ENST00000684209.1:n.763C>T | ||
| ENST00000684296.1:c.523C>T | ENSP00000507740.1:p.Arg175Cys | |
| ENST00000684505.1:c.488-16C>T | ENSP00000508237.1:n.488-16C>T | |
| ENST00000684552.1:c.523C>T | ENSP00000506899.1:p.Arg175Cys | |
| ENST00000684611.1:n.2251C>T | ||
| ENST00000684622.1:c.523C>T | ENSP00000507546.1:p.Arg175Cys | |
| ENST00000684627.1:c.340C>T | ENSP00000507471.1:p.Arg114Cys | |
| ENST00000684641.1:c.523C>T | ENSP00000507642.1:p.Arg175Cys | |
| ENST00000684675.1:c.523C>T | ENSP00000506934.1:p.Arg175Cys | |
| ENST00000684749.1:n.592C>T | ||
| ENST00000511912.6:c.523C>T MANE Select | ENSP00000426638.1:p.Arg175Cys | |
| ENST00000307738.5:c.382C>T | ENSP00000303552.5:p.Arg128Cys | |
| ENST00000506422.1:n.86+12646C>T | ||
| ENST00000507475.5:c.28C>T | ENSP00000422735.1:p.Arg10Cys | |
| ENST00000511912.5:c.523C>T | ENSP00000426638.1:p.Arg175Cys | |
| NM_001281737.1:c.382C>T | NP_001268666.1:p.Arg128Cys | |
| NM_001281738.1:c.340C>T | NP_001268667.1:p.Arg114Cys | |
| NM_004453.3:c.523C>T | NP_004444.2:p.Arg175Cys | |
| XM_024453935.1:c.340C>T | XP_024309703.1:p.Arg114Cys | |
| NM_004453.4:c.523C>T MANE Select | NP_004444.2:p.Arg175Cys | |
| NM_001281737.2:c.382C>T | NP_001268666.1:p.Arg128Cys |