Linked Data
ClinVar Variation Id:
338152
dbSNP Id:
rs377138079
ExAC:
20:31369150 C / G
gnomAD v2:
20-31369150-C-G
gnomAD v3:
20-32781344-C-G
gnomAD v4:
20-32781344-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32781344C>G , CM000682.2:g.32781344C>G | GRCh38 |
| NC_000020.10:g.31369150C>G , CM000682.1:g.31369150C>G | GRCh37 |
| NC_000020.9:g.30832811C>G | NCBI36 |
| NG_007290.1:g.23960C>G , LRG_56:g.23960C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.143-9C>G | ENSP00000512497.1:n.143-9C>G | |
| ENST00000696232.1:c.143-9C>G | ENSP00000512498.1:n.143-9C>G | |
| ENST00000696233.1:c.143-9C>G | ENSP00000512499.1:n.143-9C>G | |
| ENST00000696234.1:n.253-9C>G | ||
| ENST00000696235.1:c.143-9C>G | ENSP00000512500.1:n.143-9C>G | |
| ENST00000696236.1:c.143-9C>G | ENSP00000512501.1:n.143-9C>G | |
| ENST00000696237.1:n.249-9C>G | ||
| ENST00000696238.1:c.143-9C>G | ENSP00000512502.1:n.143-9C>G | |
| ENST00000696239.1:c.143-9C>G | ENSP00000512503.1:n.143-9C>G | |
| ENST00000201963.3:c.179-9C>G | ENSP00000201963.3:n.179-9C>G | |
| ENST00000328111.6:c.143-9C>G MANE Select | ENSP00000328547.2:n.143-9C>G | |
| ENST00000348286.6:c.143-9C>G | ENSP00000337764.2:n.143-9C>G | |
| ENST00000353855.6:c.143-9C>G | ENSP00000313397.4:n.143-9C>G | |
| ENST00000443239.7:c.143-9C>G | ENSP00000403169.2:n.143-9C>G | |
| ENST00000456297.6:c.143-9C>G | ENSP00000412305.1:n.143-9C>G | |
| NM_001207055.1:c.143-9C>G | NP_001193984.1:n.143-9C>G | |
| NM_001207056.1:c.143-9C>G | NP_001193985.1:n.143-9C>G | |
| NM_006892.3:c.143-9C>G , LRG_56t1:c.143-9C>G | NP_008823.1:n.143-9C>G | |
| NM_175848.1:c.143-9C>G | NP_787044.1:n.143-9C>G | |
| NM_175849.1:c.143-9C>G | NP_787045.1:n.143-9C>G | |
| NM_175850.2:c.179-9C>G | NP_787046.1:n.179-9C>G | |
| XM_011528653.1:c.179-9C>G | XP_011526955.1:n.179-9C>G | |
| XM_011528654.1:c.179-9C>G | XP_011526956.1:n.179-9C>G | |
| XR_936510.1:n.315-9C>G | ||
| XR_936511.1:n.315-9C>G | ||
| XR_936512.1:n.316-9C>G | ||
| XM_011528653.2:c.179-9C>G | XP_011526955.1:n.179-9C>G | |
| XM_011528654.2:c.179-9C>G | XP_011526956.1:n.179-9C>G | |
| XR_936510.2:n.326-9C>G | ||
| XR_936511.2:n.326-9C>G | ||
| XR_936512.2:n.328-9C>G | ||
| NM_001207055.2:c.143-9C>G | NP_001193984.1:n.143-9C>G | |
| NM_001207056.2:c.143-9C>G | NP_001193985.1:n.143-9C>G | |
| NM_006892.4:c.143-9C>G MANE Select | NP_008823.1:n.143-9C>G | |
| NM_175848.2:c.143-9C>G | NP_787044.1:n.143-9C>G | |
| NM_175849.2:c.143-9C>G | NP_787045.1:n.143-9C>G | |
| NM_175850.3:c.179-9C>G | NP_787046.1:n.179-9C>G |