Linked Data
ClinVar Variation Id:
6744
ClinVar RCV Id:
RCV003593855
dbSNP Id:
rs121908946
ExAC:
20:31395666 G / A
gnomAD v2:
20-31395666-G-A
gnomAD v3:
20-32807860-G-A
gnomAD v4:
20-32807860-G-A
PubMed:
PMID:12239717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807860G>A , CM000682.2:g.32807860G>A | GRCh38 |
| NC_000020.10:g.31395666G>A , CM000682.1:g.31395666G>A | GRCh37 |
| NC_000020.9:g.30859327G>A | NCBI36 |
| NG_007290.1:g.50476G>A , LRG_56:g.50476G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696231.1:c.*1470G>A | ENSP00000512497.1:n.*1470G>A | |
| ENST00000696232.1:c.2330G>A | ENSP00000512498.1:p.Arg777Gln | |
| ENST00000696233.1:c.*1073G>A | ENSP00000512499.1:n.*1073G>A | |
| ENST00000696238.1:c.*1262G>A | ENSP00000512502.1:n.*1262G>A | |
| ENST00000696239.1:c.2300G>A | ENSP00000512503.1:p.Arg767Gln | |
| ENST00000696245.1:n.544G>A | ||
| ENST00000201963.3:c.2495G>A | ENSP00000201963.3:p.Arg832Gln | |
| ENST00000328111.6:c.2519G>A MANE Select | ENSP00000328547.2:p.Arg840Gln | |
| ENST00000348286.6:c.2270G>A | ENSP00000337764.2:p.Arg757Gln | |
| ENST00000353855.6:c.2459G>A | ENSP00000313397.4:p.Arg820Gln | |
| ENST00000443239.7:c.2144G>A | ENSP00000403169.2:p.Arg715Gln | |
| ENST00000456297.6:c.2042G>A | ENSP00000412305.1:p.Arg681Gln | |
| NM_001207055.1:c.2144G>A | NP_001193984.1:p.Arg715Gln | |
| NM_001207056.1:c.2042G>A | NP_001193985.1:p.Arg681Gln | |
| NM_006892.3:c.2519G>A , LRG_56t1:c.2519G>A | NP_008823.1:p.Arg840Gln | |
| NM_175848.1:c.2459G>A | NP_787044.1:p.Arg820Gln | |
| NM_175849.1:c.2270G>A | NP_787045.1:p.Arg757Gln | |
| NM_175850.2:c.2495G>A | NP_787046.1:p.Arg832Gln | |
| XM_011528653.1:c.2306G>A | XP_011526955.1:p.Arg769Gln | |
| XM_011528654.1:c.2180G>A | XP_011526956.1:p.Arg727Gln | |
| XR_936511.1:n.2297G>A | ||
| XM_011528653.2:c.2306G>A | XP_011526955.1:p.Arg769Gln | |
| XM_011528654.2:c.2180G>A | XP_011526956.1:p.Arg727Gln | |
| XR_936511.2:n.2308G>A | ||
| NM_001207055.2:c.2144G>A | NP_001193984.1:p.Arg715Gln | |
| NM_001207056.2:c.2042G>A | NP_001193985.1:p.Arg681Gln | |
| NM_006892.4:c.2519G>A MANE Select | NP_008823.1:p.Arg840Gln | |
| NM_175848.2:c.2459G>A | NP_787044.1:p.Arg820Gln | |
| NM_175849.2:c.2270G>A | NP_787045.1:p.Arg757Gln | |
| NM_175850.3:c.2495G>A | NP_787046.1:p.Arg832Gln |