Linked Data
ClinVar Variation Id:
418184
dbSNP Id:
rs200920510
ExAC:
4:159627913 C / T
gnomAD v2:
4-159627913-C-T
gnomAD v3:
4-158706761-C-T
gnomAD v4:
4-158706761-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158706761C>T , CM000666.2:g.158706761C>T | GRCh38 |
| NC_000004.11:g.159627913C>T , CM000666.1:g.159627913C>T | GRCh37 |
| NC_000004.10:g.159847363C>T | NCBI36 |
| NG_007078.2:g.39420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.3137C>T | ||
| ENST00000682178.1:n.2633C>T | ||
| ENST00000682345.1:c.*1301C>T | ENSP00000508122.1:n.*1301C>T | |
| ENST00000682452.1:n.1932C>T | ||
| ENST00000682456.1:c.1460C>T | ENSP00000508240.1:p.Pro487Leu | |
| ENST00000682566.1:n.2384C>T | ||
| ENST00000682613.1:n.1913C>T | ||
| ENST00000682734.1:c.428C>T | ENSP00000507860.1:p.Pro143Leu | |
| ENST00000682820.1:n.1638C>T | ||
| ENST00000683004.1:c.*1294C>T | ENSP00000506936.1:n.*1294C>T | |
| ENST00000683079.1:c.*1026C>T | ENSP00000507296.1:n.*1026C>T | |
| ENST00000683081.1:c.*1438C>T | ENSP00000507722.1:n.*1438C>T | |
| ENST00000683181.1:n.880C>T | ||
| ENST00000683209.1:n.3927C>T | ||
| ENST00000683305.1:c.1418C>T | ENSP00000508043.1:p.Pro473Leu | |
| ENST00000683448.1:c.*521C>T | ENSP00000506931.1:n.*521C>T | |
| ENST00000683478.1:c.*952C>T | ENSP00000507793.1:n.*952C>T | |
| ENST00000683483.1:c.1457C>T | ENSP00000507719.1:p.Pro486Leu | |
| ENST00000683622.1:n.1315C>T | ||
| ENST00000683751.1:c.1106C>T | ENSP00000506944.1:p.Pro369Leu | |
| ENST00000684036.1:c.1418C>T | ENSP00000507276.1:p.Pro473Leu | |
| ENST00000684129.1:c.428C>T | ENSP00000507174.1:p.Pro143Leu | |
| ENST00000684209.1:n.1976C>T | ||
| ENST00000684296.1:c.*521C>T | ENSP00000507740.1:n.*521C>T | |
| ENST00000684505.1:c.1550C>T | ENSP00000508237.1:p.Pro517Leu | |
| ENST00000684552.1:c.*3020C>T | ENSP00000506899.1:n.*3020C>T | |
| ENST00000684611.1:n.3329C>T | ||
| ENST00000684622.1:c.1601C>T | ENSP00000507546.1:p.Pro534Leu | |
| ENST00000684627.1:c.1418C>T | ENSP00000507471.1:p.Pro473Leu | |
| ENST00000684641.1:c.1316C>T | ENSP00000507642.1:p.Pro439Leu | |
| ENST00000684675.1:c.*448C>T | ENSP00000506934.1:n.*448C>T | |
| ENST00000684749.1:n.1670C>T | ||
| ENST00000511912.6:c.1601C>T MANE Select | ENSP00000426638.1:p.Pro534Leu | |
| ENST00000307738.5:c.1460C>T | ENSP00000303552.5:p.Pro487Leu | |
| ENST00000506422.1:n.571C>T | ||
| ENST00000511912.5:c.1601C>T | ENSP00000426638.1:p.Pro534Leu | |
| NM_001281737.1:c.1460C>T | NP_001268666.1:p.Pro487Leu | |
| NM_001281738.1:c.1418C>T | NP_001268667.1:p.Pro473Leu | |
| NM_004453.3:c.1601C>T | NP_004444.2:p.Pro534Leu | |
| XM_024453935.1:c.1418C>T | XP_024309703.1:p.Pro473Leu | |
| NM_004453.4:c.1601C>T MANE Select | NP_004444.2:p.Pro534Leu | |
| NM_001281737.2:c.1460C>T | NP_001268666.1:p.Pro487Leu |