Linked Data
ClinVar Variation Id:
347957
ClinVar RCV Id:
RCV000392282
dbSNP Id:
rs201823591
ExAC:
4:159601726 A / G
gnomAD v2:
4-159601726-A-G
gnomAD v3:
4-158680574-A-G
gnomAD v4:
4-158680574-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158680574A>G , CM000666.2:g.158680574A>G | GRCh38 |
| NC_000004.11:g.159601726A>G , CM000666.1:g.159601726A>G | GRCh37 |
| NC_000004.10:g.159821176A>G | NCBI36 |
| NG_007078.2:g.13233A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436096.3:n.393A>G | ||
| ENST00000507475.6:n.179-4018A>G | ||
| ENST00000681978.1:n.391A>G | ||
| ENST00000682178.1:n.167A>G | ||
| ENST00000682345.1:c.81A>G | ENSP00000508122.1:p.Leu27= | |
| ENST00000682409.1:n.251A>G | ||
| ENST00000682452.1:n.473A>G | ||
| ENST00000682456.1:c.142A>G | ENSP00000508240.1:p.Ile48Val | |
| ENST00000682601.1:n.333A>G | ||
| ENST00000682734.1:c.-649-4018A>G | ENSP00000507860.1:n.-649-4018A>G | |
| ENST00000682820.1:n.179A>G | ||
| ENST00000682910.1:n.449A>G | ||
| ENST00000683004.1:c.142A>G | ENSP00000506936.1:p.Ile48Val | |
| ENST00000683079.1:c.142A>G | ENSP00000507296.1:p.Ile48Val | |
| ENST00000683081.1:c.142A>G | ENSP00000507722.1:p.Ile48Val | |
| ENST00000683305.1:c.-52-997A>G | ENSP00000508043.1:n.-52-997A>G | |
| ENST00000683448.1:c.-90-4018A>G | ENSP00000506931.1:n.-90-4018A>G | |
| ENST00000683478.1:c.142A>G | ENSP00000507793.1:p.Ile48Val | |
| ENST00000683483.1:c.142A>G | ENSP00000507719.1:p.Ile48Val | |
| ENST00000683750.1:n.265A>G | ||
| ENST00000683751.1:c.-90-4018A>G | ENSP00000506944.1:n.-90-4018A>G | |
| ENST00000683799.1:n.451A>G | ||
| ENST00000684036.1:c.-42A>G | ENSP00000507276.1:n.-42A>G | |
| ENST00000684129.1:c.-694-4018A>G | ENSP00000507174.1:n.-694-4018A>G | |
| ENST00000684209.1:n.382A>G | ||
| ENST00000684296.1:c.142A>G | ENSP00000507740.1:p.Ile48Val | |
| ENST00000684505.1:c.142A>G | ENSP00000508237.1:p.Ile48Val | |
| ENST00000684552.1:c.142A>G | ENSP00000506899.1:p.Ile48Val | |
| ENST00000684611.1:n.283A>G | ||
| ENST00000684622.1:c.142A>G | ENSP00000507546.1:p.Ile48Val | |
| ENST00000684627.1:c.-42A>G | ENSP00000507471.1:n.-42A>G | |
| ENST00000684641.1:c.142A>G | ENSP00000507642.1:p.Ile48Val | |
| ENST00000684675.1:c.142A>G | ENSP00000506934.1:p.Ile48Val | |
| ENST00000684749.1:n.167A>G | ||
| ENST00000511912.6:c.142A>G MANE Select | ENSP00000426638.1:p.Ile48Val | |
| ENST00000307738.5:c.35-1621A>G | ENSP00000303552.5:n.35-1621A>G | |
| ENST00000436096.2:n.283A>G | ||
| ENST00000506422.1:n.86+8084A>G | ||
| ENST00000507475.5:c.-90-4018A>G | ENSP00000422735.1:n.-90-4018A>G | |
| ENST00000511912.5:c.142A>G | ENSP00000426638.1:p.Ile48Val | |
| ENST00000512251.5:c.81A>G | ENSP00000425661.1:p.Leu27= | |
| NM_001281737.1:c.35-1621A>G | NP_001268666.1:n.35-1621A>G | |
| NM_004453.3:c.142A>G | NP_004444.2:p.Ile48Val | |
| XM_024453935.1:c.-42A>G | XP_024309703.1:n.-42A>G | |
| NM_004453.4:c.142A>G MANE Select | NP_004444.2:p.Ile48Val | |
| NM_001281737.2:c.35-1621A>G | NP_001268666.1:n.35-1621A>G |