Linked Data
ClinVar Variation Id:
203730
dbSNP Id:
rs796051965
gnomAD v2:
4-159603579-A-T
gnomAD v3:
4-158682427-A-T
gnomAD v4:
4-158682427-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158682427A>T , CM000666.2:g.158682427A>T | GRCh38 |
| NC_000004.11:g.159603579A>T , CM000666.1:g.159603579A>T | GRCh37 |
| NC_000004.10:g.159823029A>T | NCBI36 |
| NG_007078.2:g.15086A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436096.3:n.659A>T | ||
| ENST00000507475.6:n.179-2165A>T | ||
| ENST00000681978.1:n.654+3A>T | ||
| ENST00000682178.1:n.1437+3A>T | ||
| ENST00000682345.1:c.*224+3A>T | ENSP00000508122.1:n.*224+3A>T | |
| ENST00000682409.1:n.2104A>T | ||
| ENST00000682452.1:n.736+3A>T | ||
| ENST00000682456.1:c.405+3A>T | ENSP00000508240.1:n.405+3A>T | |
| ENST00000682601.1:n.596+3A>T | ||
| ENST00000682734.1:c.-649-2165A>T | ENSP00000507860.1:n.-649-2165A>T | |
| ENST00000682820.1:n.442+3A>T | ||
| ENST00000682910.1:n.712+3A>T | ||
| ENST00000683004.1:c.*242+3A>T | ENSP00000506936.1:n.*242+3A>T | |
| ENST00000683079.1:c.405+3A>T | ENSP00000507296.1:n.405+3A>T | |
| ENST00000683081.1:c.*242+3A>T | ENSP00000507722.1:n.*242+3A>T | |
| ENST00000683123.1:n.27+3A>T | ||
| ENST00000683305.1:c.222+3A>T | ENSP00000508043.1:n.222+3A>T | |
| ENST00000683448.1:c.-90-2165A>T | ENSP00000506931.1:n.-90-2165A>T | |
| ENST00000683478.1:c.405+3A>T | ENSP00000507793.1:n.405+3A>T | |
| ENST00000683483.1:c.405+3A>T | ENSP00000507719.1:n.405+3A>T | |
| ENST00000683750.1:n.528+3A>T | ||
| ENST00000683751.1:c.-90-2165A>T | ENSP00000506944.1:n.-90-2165A>T | |
| ENST00000683799.1:n.1724A>T | ||
| ENST00000684036.1:c.222+3A>T | ENSP00000507276.1:n.222+3A>T | |
| ENST00000684129.1:c.-694-2165A>T | ENSP00000507174.1:n.-694-2165A>T | |
| ENST00000684209.1:n.645+3A>T | ||
| ENST00000684296.1:c.405+3A>T | ENSP00000507740.1:n.405+3A>T | |
| ENST00000684505.1:c.405+3A>T | ENSP00000508237.1:n.405+3A>T | |
| ENST00000684552.1:c.405+3A>T | ENSP00000506899.1:n.405+3A>T | |
| ENST00000684611.1:n.2133+3A>T | ||
| ENST00000684622.1:c.405+3A>T | ENSP00000507546.1:n.405+3A>T | |
| ENST00000684627.1:c.222+3A>T | ENSP00000507471.1:n.222+3A>T | |
| ENST00000684641.1:c.405+3A>T | ENSP00000507642.1:n.405+3A>T | |
| ENST00000684675.1:c.405+3A>T | ENSP00000506934.1:n.405+3A>T | |
| ENST00000684749.1:n.474+3A>T | ||
| ENST00000511912.6:c.405+3A>T MANE Select | ENSP00000426638.1:n.405+3A>T | |
| ENST00000307738.5:c.264+3A>T | ENSP00000303552.5:n.264+3A>T | |
| ENST00000506422.1:n.86+9937A>T | ||
| ENST00000507475.5:c.-90-2165A>T | ENSP00000422735.1:n.-90-2165A>T | |
| ENST00000511912.5:c.405+3A>T | ENSP00000426638.1:n.405+3A>T | |
| ENST00000514148.1:n.483+3A>T | ||
| NM_001281737.1:c.264+3A>T | NP_001268666.1:n.264+3A>T | |
| NM_001281738.1:c.222+3A>T | NP_001268667.1:n.222+3A>T | |
| NM_004453.3:c.405+3A>T | NP_004444.2:n.405+3A>T | |
| XM_024453935.1:c.222+3A>T | XP_024309703.1:n.222+3A>T | |
| NM_004453.4:c.405+3A>T MANE Select | NP_004444.2:n.405+3A>T | |
| NM_001281737.2:c.264+3A>T | NP_001268666.1:n.264+3A>T |