Linked Data
ClinVar Variation Id:
12028
dbSNP Id:
rs121964954
ExAC:
4:159603421 G / A
gnomAD v2:
4-159603421-G-A
gnomAD v3:
4-158682269-G-A
gnomAD v4:
4-158682269-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158682269G>A , CM000666.2:g.158682269G>A | GRCh38 |
| NC_000004.11:g.159603421G>A , CM000666.1:g.159603421G>A | GRCh37 |
| NC_000004.10:g.159822871G>A | NCBI36 |
| NG_007078.2:g.14928G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436096.3:n.501G>A | ||
| ENST00000507475.6:n.179-2323G>A | ||
| ENST00000681978.1:n.499G>A | ||
| ENST00000682178.1:n.1282G>A | ||
| ENST00000682345.1:c.*69G>A | ENSP00000508122.1:n.*69G>A | |
| ENST00000682409.1:n.1946G>A | ||
| ENST00000682452.1:n.581G>A | ||
| ENST00000682456.1:c.250G>A | ENSP00000508240.1:p.Ala84Thr | |
| ENST00000682601.1:n.441G>A | ||
| ENST00000682734.1:c.-649-2323G>A | ENSP00000507860.1:n.-649-2323G>A | |
| ENST00000682820.1:n.287G>A | ||
| ENST00000682910.1:n.557G>A | ||
| ENST00000683004.1:c.*87G>A | ENSP00000506936.1:n.*87G>A | |
| ENST00000683079.1:c.250G>A | ENSP00000507296.1:p.Ala84Thr | |
| ENST00000683081.1:c.*87G>A | ENSP00000507722.1:n.*87G>A | |
| ENST00000683305.1:c.67G>A | ENSP00000508043.1:p.Ala23Thr | |
| ENST00000683448.1:c.-90-2323G>A | ENSP00000506931.1:n.-90-2323G>A | |
| ENST00000683478.1:c.250G>A | ENSP00000507793.1:p.Ala84Thr | |
| ENST00000683483.1:c.250G>A | ENSP00000507719.1:p.Ala84Thr | |
| ENST00000683750.1:n.373G>A | ||
| ENST00000683751.1:c.-90-2323G>A | ENSP00000506944.1:n.-90-2323G>A | |
| ENST00000683799.1:n.1566G>A | ||
| ENST00000684036.1:c.67G>A | ENSP00000507276.1:p.Ala23Thr | |
| ENST00000684129.1:c.-694-2323G>A | ENSP00000507174.1:n.-694-2323G>A | |
| ENST00000684209.1:n.490G>A | ||
| ENST00000684296.1:c.250G>A | ENSP00000507740.1:p.Ala84Thr | |
| ENST00000684505.1:c.250G>A | ENSP00000508237.1:p.Ala84Thr | |
| ENST00000684552.1:c.250G>A | ENSP00000506899.1:p.Ala84Thr | |
| ENST00000684611.1:n.1978G>A | ||
| ENST00000684622.1:c.250G>A | ENSP00000507546.1:p.Ala84Thr | |
| ENST00000684627.1:c.67G>A | ENSP00000507471.1:p.Ala23Thr | |
| ENST00000684641.1:c.250G>A | ENSP00000507642.1:p.Ala84Thr | |
| ENST00000684675.1:c.250G>A | ENSP00000506934.1:p.Ala84Thr | |
| ENST00000684749.1:n.319G>A | ||
| ENST00000511912.6:c.250G>A MANE Select | ENSP00000426638.1:p.Ala84Thr | |
| ENST00000307738.5:c.109G>A | ENSP00000303552.5:p.Ala37Thr | |
| ENST00000436096.2:n.435G>A | ||
| ENST00000506422.1:n.86+9779G>A | ||
| ENST00000507475.5:c.-90-2323G>A | ENSP00000422735.1:n.-90-2323G>A | |
| ENST00000511912.5:c.250G>A | ENSP00000426638.1:p.Ala84Thr | |
| ENST00000514148.1:n.328G>A | ||
| NM_001281737.1:c.109G>A | NP_001268666.1:p.Ala37Thr | |
| NM_001281738.1:c.67G>A | NP_001268667.1:p.Ala23Thr | |
| NM_004453.3:c.250G>A | NP_004444.2:p.Ala84Thr | |
| XM_024453935.1:c.67G>A | XP_024309703.1:p.Ala23Thr | |
| NM_004453.4:c.250G>A MANE Select | NP_004444.2:p.Ala84Thr | |
| NM_001281737.2:c.109G>A | NP_001268666.1:p.Ala37Thr |