Linked Data
ClinVar Variation Id:
95072
dbSNP Id:
rs398124152
ExAC:
4:159627422 C / T
gnomAD v2:
4-159627422-C-T
gnomAD v3:
4-158706270-C-T
gnomAD v4:
4-158706270-C-T
COSMIC:
COSM6327090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158706270C>T , CM000666.2:g.158706270C>T | GRCh38 |
| NC_000004.11:g.159627422C>T , CM000666.1:g.159627422C>T | GRCh37 |
| NC_000004.10:g.159846872C>T | NCBI36 |
| NG_007078.2:g.38929C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2903C>T | ||
| ENST00000682178.1:n.2399C>T | ||
| ENST00000682345.1:c.*1067C>T | ENSP00000508122.1:n.*1067C>T | |
| ENST00000682452.1:n.1698C>T | ||
| ENST00000682456.1:c.1226C>T | ENSP00000508240.1:p.Pro409Leu | |
| ENST00000682566.1:n.2150C>T | ||
| ENST00000682613.1:n.1679C>T | ||
| ENST00000682734.1:c.194C>T | ENSP00000507860.1:p.Pro65Leu | |
| ENST00000682820.1:n.1404C>T | ||
| ENST00000683004.1:c.*1060C>T | ENSP00000506936.1:n.*1060C>T | |
| ENST00000683079.1:c.*792C>T | ENSP00000507296.1:n.*792C>T | |
| ENST00000683081.1:c.*1204C>T | ENSP00000507722.1:n.*1204C>T | |
| ENST00000683181.1:n.646C>T | ||
| ENST00000683209.1:n.3693C>T | ||
| ENST00000683305.1:c.1184C>T | ENSP00000508043.1:p.Pro395Leu | |
| ENST00000683448.1:c.*287C>T | ENSP00000506931.1:n.*287C>T | |
| ENST00000683478.1:c.*718C>T | ENSP00000507793.1:n.*718C>T | |
| ENST00000683483.1:c.1223C>T | ENSP00000507719.1:p.Pro408Leu | |
| ENST00000683622.1:n.1081C>T | ||
| ENST00000683751.1:c.872C>T | ENSP00000506944.1:p.Pro291Leu | |
| ENST00000684036.1:c.1184C>T | ENSP00000507276.1:p.Pro395Leu | |
| ENST00000684129.1:c.194C>T | ENSP00000507174.1:p.Pro65Leu | |
| ENST00000684209.1:n.1742C>T | ||
| ENST00000684296.1:c.*287C>T | ENSP00000507740.1:n.*287C>T | |
| ENST00000684505.1:c.1316C>T | ENSP00000508237.1:p.Pro439Leu | |
| ENST00000684552.1:c.*2786C>T | ENSP00000506899.1:n.*2786C>T | |
| ENST00000684611.1:n.3095C>T | ||
| ENST00000684622.1:c.1367C>T | ENSP00000507546.1:p.Pro456Leu | |
| ENST00000684627.1:c.1184C>T | ENSP00000507471.1:p.Pro395Leu | |
| ENST00000684641.1:c.1082C>T | ENSP00000507642.1:p.Pro361Leu | |
| ENST00000684675.1:c.*214C>T | ENSP00000506934.1:n.*214C>T | |
| ENST00000684749.1:n.1436C>T | ||
| ENST00000511912.6:c.1367C>T MANE Select | ENSP00000426638.1:p.Pro456Leu | |
| ENST00000307738.5:c.1226C>T | ENSP00000303552.5:p.Pro409Leu | |
| ENST00000506422.1:n.337C>T | ||
| ENST00000511912.5:c.1367C>T | ENSP00000426638.1:p.Pro456Leu | |
| NM_001281737.1:c.1226C>T | NP_001268666.1:p.Pro409Leu | |
| NM_001281738.1:c.1184C>T | NP_001268667.1:p.Pro395Leu | |
| NM_004453.3:c.1367C>T | NP_004444.2:p.Pro456Leu | |
| XM_024453935.1:c.1184C>T | XP_024309703.1:p.Pro395Leu | |
| NM_004453.4:c.1367C>T MANE Select | NP_004444.2:p.Pro456Leu | |
| NM_001281737.2:c.1226C>T | NP_001268666.1:p.Pro409Leu |