Linked Data
ClinVar Variation Id:
431962
dbSNP Id:
rs779896449
ExAC:
4:159605751 T / G
gnomAD v2:
4-159605751-T-G
gnomAD v3:
4-158684599-T-G
gnomAD v4:
4-158684599-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158684599T>G , CM000666.2:g.158684599T>G | GRCh38 |
| NC_000004.11:g.159605751T>G , CM000666.1:g.159605751T>G | GRCh37 |
| NC_000004.10:g.159825201T>G | NCBI36 |
| NG_007078.2:g.17258T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.186T>G | ||
| ENST00000681978.1:n.662T>G | ||
| ENST00000682178.1:n.1445T>G | ||
| ENST00000682345.1:c.*232T>G | ENSP00000508122.1:n.*232T>G | |
| ENST00000682452.1:n.744T>G | ||
| ENST00000682456.1:c.413T>G | ENSP00000508240.1:p.Leu138Arg | |
| ENST00000682601.1:n.604T>G | ||
| ENST00000682734.1:c.-642T>G | ENSP00000507860.1:n.-642T>G | |
| ENST00000682820.1:n.450T>G | ||
| ENST00000682910.1:n.720T>G | ||
| ENST00000683004.1:c.*250T>G | ENSP00000506936.1:n.*250T>G | |
| ENST00000683079.1:c.413T>G | ENSP00000507296.1:p.Leu138Arg | |
| ENST00000683081.1:c.*250T>G | ENSP00000507722.1:n.*250T>G | |
| ENST00000683123.1:n.35T>G | ||
| ENST00000683305.1:c.230T>G | ENSP00000508043.1:p.Leu77Arg | |
| ENST00000683448.1:c.-83T>G | ENSP00000506931.1:n.-83T>G | |
| ENST00000683478.1:c.413T>G | ENSP00000507793.1:p.Leu138Arg | |
| ENST00000683483.1:c.413T>G | ENSP00000507719.1:p.Leu138Arg | |
| ENST00000683750.1:n.536T>G | ||
| ENST00000683751.1:c.-83T>G | ENSP00000506944.1:n.-83T>G | |
| ENST00000684036.1:c.230T>G | ENSP00000507276.1:p.Leu77Arg | |
| ENST00000684129.1:c.-687T>G | ENSP00000507174.1:n.-687T>G | |
| ENST00000684209.1:n.653T>G | ||
| ENST00000684296.1:c.413T>G | ENSP00000507740.1:p.Leu138Arg | |
| ENST00000684505.1:c.413T>G | ENSP00000508237.1:p.Leu138Arg | |
| ENST00000684552.1:c.413T>G | ENSP00000506899.1:p.Leu138Arg | |
| ENST00000684611.1:n.2141T>G | ||
| ENST00000684622.1:c.413T>G | ENSP00000507546.1:p.Leu138Arg | |
| ENST00000684627.1:c.230T>G | ENSP00000507471.1:p.Leu77Arg | |
| ENST00000684641.1:c.413T>G | ENSP00000507642.1:p.Leu138Arg | |
| ENST00000684675.1:c.413T>G | ENSP00000506934.1:p.Leu138Arg | |
| ENST00000684749.1:n.482T>G | ||
| ENST00000511912.6:c.413T>G MANE Select | ENSP00000426638.1:p.Leu138Arg | |
| ENST00000307738.5:c.272T>G | ENSP00000303552.5:p.Leu91Arg | |
| ENST00000506422.1:n.86+12109T>G | ||
| ENST00000507475.5:c.-83T>G | ENSP00000422735.1:n.-83T>G | |
| ENST00000511912.5:c.413T>G | ENSP00000426638.1:p.Leu138Arg | |
| ENST00000514148.1:n.491T>G | ||
| NM_001281737.1:c.272T>G | NP_001268666.1:p.Leu91Arg | |
| NM_001281738.1:c.230T>G | NP_001268667.1:p.Leu77Arg | |
| NM_004453.3:c.413T>G | NP_004444.2:p.Leu138Arg | |
| XM_024453935.1:c.230T>G | XP_024309703.1:p.Leu77Arg | |
| NM_004453.4:c.413T>G MANE Select | NP_004444.2:p.Leu138Arg | |
| NM_001281737.2:c.272T>G | NP_001268666.1:p.Leu91Arg |