Linked Data
ClinVar Variation Id:
203720
dbSNP Id:
rs796051959
gnomAD v2:
4-159620239-G-A
gnomAD v4:
4-158699087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158699087G>A , CM000666.2:g.158699087G>A | GRCh38 |
| NC_000004.11:g.159620239G>A , CM000666.1:g.159620239G>A | GRCh37 |
| NC_000004.10:g.159839689G>A | NCBI36 |
| NG_007078.2:g.31746G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2609G>A | ||
| ENST00000682178.1:n.2105G>A | ||
| ENST00000682345.1:c.*773G>A | ENSP00000508122.1:n.*773G>A | |
| ENST00000682452.1:n.1404G>A | ||
| ENST00000682456.1:c.932G>A | ENSP00000508240.1:p.Arg311Lys | |
| ENST00000682566.1:n.1856G>A | ||
| ENST00000682613.1:n.1385G>A | ||
| ENST00000682734.1:c.-101G>A | ENSP00000507860.1:n.-101G>A | |
| ENST00000682820.1:n.1110G>A | ||
| ENST00000683004.1:c.*809+1388G>A | ENSP00000506936.1:n.*809+1388G>A | |
| ENST00000683079.1:c.*453G>A | ENSP00000507296.1:n.*453G>A | |
| ENST00000683081.1:c.*910G>A | ENSP00000507722.1:n.*910G>A | |
| ENST00000683181.1:n.307G>A | ||
| ENST00000683305.1:c.890G>A | ENSP00000508043.1:p.Arg297Lys | |
| ENST00000683448.1:c.578G>A | ENSP00000506931.1:p.Arg193Lys | |
| ENST00000683478.1:c.*424G>A | ENSP00000507793.1:n.*424G>A | |
| ENST00000683483.1:c.972+1388G>A | ENSP00000507719.1:n.972+1388G>A | |
| ENST00000683751.1:c.578G>A | ENSP00000506944.1:p.Arg193Lys | |
| ENST00000684036.1:c.890G>A | ENSP00000507276.1:p.Arg297Lys | |
| ENST00000684129.1:c.-146G>A | ENSP00000507174.1:n.-146G>A | |
| ENST00000684209.1:n.1448G>A | ||
| ENST00000684296.1:c.1073G>A | ENSP00000507740.1:p.Arg358Lys | |
| ENST00000684505.1:c.1022G>A | ENSP00000508237.1:p.Arg341Lys | |
| ENST00000684552.1:c.1073G>A | ENSP00000506899.1:p.Arg358Lys | |
| ENST00000684611.1:n.2801G>A | ||
| ENST00000684622.1:c.1073G>A | ENSP00000507546.1:p.Arg358Lys | |
| ENST00000684627.1:c.890G>A | ENSP00000507471.1:p.Arg297Lys | |
| ENST00000684641.1:c.831+3444G>A | ENSP00000507642.1:n.831+3444G>A | |
| ENST00000684675.1:c.1073G>A | ENSP00000506934.1:p.Arg358Lys | |
| ENST00000684749.1:n.1142G>A | ||
| ENST00000511912.6:c.1073G>A MANE Select | ENSP00000426638.1:p.Arg358Lys | |
| ENST00000307738.5:c.932G>A | ENSP00000303552.5:p.Arg311Lys | |
| ENST00000506422.1:n.87-4336G>A | ||
| ENST00000511912.5:c.1073G>A | ENSP00000426638.1:p.Arg358Lys | |
| NM_001281737.1:c.932G>A | NP_001268666.1:p.Arg311Lys | |
| NM_001281738.1:c.890G>A | NP_001268667.1:p.Arg297Lys | |
| NM_004453.3:c.1073G>A | NP_004444.2:p.Arg358Lys | |
| XM_024453935.1:c.890G>A | XP_024309703.1:p.Arg297Lys | |
| NM_004453.4:c.1073G>A MANE Select | NP_004444.2:p.Arg358Lys | |
| NM_001281737.2:c.932G>A | NP_001268666.1:p.Arg311Lys |