Linked Data
ClinVar Variation Id:
265124
dbSNP Id:
rs761669036
ExAC:
4:159629657 G / A
gnomAD v2:
4-159629657-G-A
gnomAD v3:
4-158708505-G-A
gnomAD v4:
4-158708505-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158708505G>A , CM000666.2:g.158708505G>A | GRCh38 |
| NC_000004.11:g.159629657G>A , CM000666.1:g.159629657G>A | GRCh37 |
| NC_000004.10:g.159849107G>A | NCBI36 |
| NG_007078.2:g.41164G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.3368G>A | ||
| ENST00000682178.1:n.2864G>A | ||
| ENST00000682345.1:c.*1532G>A | ENSP00000508122.1:n.*1532G>A | |
| ENST00000682452.1:n.2163G>A | ||
| ENST00000682456.1:c.1691G>A | ENSP00000508240.1:p.Gly564Glu | |
| ENST00000682566.1:n.2615G>A | ||
| ENST00000682613.1:n.2144G>A | ||
| ENST00000682734.1:c.659G>A | ENSP00000507860.1:p.Gly220Glu | |
| ENST00000682820.1:n.1869G>A | ||
| ENST00000683004.1:c.*1525G>A | ENSP00000506936.1:n.*1525G>A | |
| ENST00000683079.1:c.*1257G>A | ENSP00000507296.1:n.*1257G>A | |
| ENST00000683081.1:c.*1669G>A | ENSP00000507722.1:n.*1669G>A | |
| ENST00000683181.1:n.1111G>A | ||
| ENST00000683209.1:n.4158G>A | ||
| ENST00000683305.1:c.1649G>A | ENSP00000508043.1:p.Gly550Glu | |
| ENST00000683448.1:c.*752G>A | ENSP00000506931.1:n.*752G>A | |
| ENST00000683478.1:c.*1183G>A | ENSP00000507793.1:n.*1183G>A | |
| ENST00000683483.1:c.1688G>A | ENSP00000507719.1:p.Gly563Glu | |
| ENST00000683622.1:n.3059G>A | ||
| ENST00000683751.1:c.1337G>A | ENSP00000506944.1:p.Gly446Glu | |
| ENST00000684036.1:c.1649G>A | ENSP00000507276.1:p.Gly550Glu | |
| ENST00000684129.1:c.659G>A | ENSP00000507174.1:p.Gly220Glu | |
| ENST00000684209.1:n.2207G>A | ||
| ENST00000684296.1:c.*752G>A | ENSP00000507740.1:n.*752G>A | |
| ENST00000684505.1:c.1781G>A | ENSP00000508237.1:p.Gly594Glu | |
| ENST00000684552.1:c.*3251G>A | ENSP00000506899.1:n.*3251G>A | |
| ENST00000684611.1:n.3560G>A | ||
| ENST00000684627.1:c.1649G>A | ENSP00000507471.1:p.Gly550Glu | |
| ENST00000684641.1:c.1547G>A | ENSP00000507642.1:p.Gly516Glu | |
| ENST00000684675.1:c.*679G>A | ENSP00000506934.1:n.*679G>A | |
| ENST00000684749.1:n.1901G>A | ||
| ENST00000511912.6:c.1832G>A MANE Select | ENSP00000426638.1:p.Gly611Glu | |
| ENST00000307738.5:c.1691G>A | ENSP00000303552.5:p.Gly564Glu | |
| ENST00000506422.1:n.802G>A | ||
| ENST00000511912.5:c.1832G>A | ENSP00000426638.1:p.Gly611Glu | |
| NM_001281737.1:c.1691G>A | NP_001268666.1:p.Gly564Glu | |
| NM_001281738.1:c.1649G>A | NP_001268667.1:p.Gly550Glu | |
| NM_004453.3:c.1832G>A | NP_004444.2:p.Gly611Glu | |
| XM_024453935.1:c.1649G>A | XP_024309703.1:p.Gly550Glu | |
| NM_004453.4:c.1832G>A MANE Select | NP_004444.2:p.Gly611Glu | |
| NM_001281737.2:c.1691G>A | NP_001268666.1:p.Gly564Glu |