Linked Data
ClinVar Variation Id:
203721
dbSNP Id:
rs776428695
ExAC:
4:159620245 C / T
gnomAD v2:
4-159620245-C-T
gnomAD v3:
4-158699093-C-T
gnomAD v4:
4-158699093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158699093C>T , CM000666.2:g.158699093C>T | GRCh38 |
| NC_000004.11:g.159620245C>T , CM000666.1:g.159620245C>T | GRCh37 |
| NC_000004.10:g.159839695C>T | NCBI36 |
| NG_007078.2:g.31752C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2615C>T | ||
| ENST00000682178.1:n.2111C>T | ||
| ENST00000682345.1:c.*779C>T | ENSP00000508122.1:n.*779C>T | |
| ENST00000682452.1:n.1410C>T | ||
| ENST00000682456.1:c.938C>T | ENSP00000508240.1:p.Ala313Val | |
| ENST00000682566.1:n.1862C>T | ||
| ENST00000682613.1:n.1391C>T | ||
| ENST00000682734.1:c.-95C>T | ENSP00000507860.1:n.-95C>T | |
| ENST00000682820.1:n.1116C>T | ||
| ENST00000683004.1:c.*809+1394C>T | ENSP00000506936.1:n.*809+1394C>T | |
| ENST00000683079.1:c.*459C>T | ENSP00000507296.1:n.*459C>T | |
| ENST00000683081.1:c.*916C>T | ENSP00000507722.1:n.*916C>T | |
| ENST00000683181.1:n.313C>T | ||
| ENST00000683305.1:c.896C>T | ENSP00000508043.1:p.Ala299Val | |
| ENST00000683448.1:c.584C>T | ENSP00000506931.1:p.Ala195Val | |
| ENST00000683478.1:c.*430C>T | ENSP00000507793.1:n.*430C>T | |
| ENST00000683483.1:c.972+1394C>T | ENSP00000507719.1:n.972+1394C>T | |
| ENST00000683751.1:c.584C>T | ENSP00000506944.1:p.Ala195Val | |
| ENST00000684036.1:c.896C>T | ENSP00000507276.1:p.Ala299Val | |
| ENST00000684129.1:c.-140C>T | ENSP00000507174.1:n.-140C>T | |
| ENST00000684209.1:n.1454C>T | ||
| ENST00000684296.1:c.1079C>T | ENSP00000507740.1:p.Ala360Val | |
| ENST00000684505.1:c.1028C>T | ENSP00000508237.1:p.Ala343Val | |
| ENST00000684552.1:c.1079C>T | ENSP00000506899.1:p.Ala360Val | |
| ENST00000684611.1:n.2807C>T | ||
| ENST00000684622.1:c.1079C>T | ENSP00000507546.1:p.Ala360Val | |
| ENST00000684627.1:c.896C>T | ENSP00000507471.1:p.Ala299Val | |
| ENST00000684641.1:c.831+3450C>T | ENSP00000507642.1:n.831+3450C>T | |
| ENST00000684675.1:c.1079C>T | ENSP00000506934.1:p.Ala360Val | |
| ENST00000684749.1:n.1148C>T | ||
| ENST00000511912.6:c.1079C>T MANE Select | ENSP00000426638.1:p.Ala360Val | |
| ENST00000307738.5:c.938C>T | ENSP00000303552.5:p.Ala313Val | |
| ENST00000506422.1:n.87-4330C>T | ||
| ENST00000511912.5:c.1079C>T | ENSP00000426638.1:p.Ala360Val | |
| NM_001281737.1:c.938C>T | NP_001268666.1:p.Ala313Val | |
| NM_001281738.1:c.896C>T | NP_001268667.1:p.Ala299Val | |
| NM_004453.3:c.1079C>T | NP_004444.2:p.Ala360Val | |
| XM_024453935.1:c.896C>T | XP_024309703.1:p.Ala299Val | |
| NM_004453.4:c.1079C>T MANE Select | NP_004444.2:p.Ala360Val | |
| NM_001281737.2:c.938C>T | NP_001268666.1:p.Ala313Val |