Linked Data
ClinVar Variation Id:
2736959
ClinVar RCV Id:
RCV003593402
dbSNP Id:
rs1191203668
gnomAD v2:
20-31393208-G-C
gnomAD v4:
20-32805402-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32805402G>C , CM000682.2:g.32805402G>C | GRCh38 |
| NC_000020.10:g.31393208G>C , CM000682.1:g.31393208G>C | GRCh37 |
| NC_000020.9:g.30856869G>C | NCBI36 |
| NG_007290.1:g.48018G>C , LRG_56:g.48018G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1247G>C | ENSP00000512497.1:n.*1247G>C | |
| ENST00000696232.1:c.2232-2360G>C | ENSP00000512498.1:n.2232-2360G>C | |
| ENST00000696233.1:c.*975-2360G>C | ENSP00000512499.1:n.*975-2360G>C | |
| ENST00000696238.1:c.*1039G>C | ENSP00000512502.1:n.*1039G>C | |
| ENST00000696239.1:c.2077G>C | ENSP00000512503.1:p.Ala693Pro | |
| ENST00000696245.1:n.327-807G>C | ||
| ENST00000201963.3:c.2272G>C | ENSP00000201963.3:p.Ala758Pro | |
| ENST00000328111.6:c.2296G>C MANE Select | ENSP00000328547.2:p.Ala766Pro | |
| ENST00000348286.6:c.2172-2360G>C | ENSP00000337764.2:n.2172-2360G>C | |
| ENST00000353855.6:c.2236G>C | ENSP00000313397.4:p.Ala746Pro | |
| ENST00000443239.7:c.2046-2360G>C | ENSP00000403169.2:n.2046-2360G>C | |
| ENST00000456297.6:c.1944-2360G>C | ENSP00000412305.1:n.1944-2360G>C | |
| NM_001207055.1:c.2046-2360G>C | NP_001193984.1:n.2046-2360G>C | |
| NM_001207056.1:c.1944-2360G>C | NP_001193985.1:n.1944-2360G>C | |
| NM_006892.3:c.2296G>C , LRG_56t1:c.2296G>C | NP_008823.1:p.Ala766Pro | |
| NM_175848.1:c.2236G>C | NP_787044.1:p.Ala746Pro | |
| NM_175849.1:c.2172-2360G>C | NP_787045.1:n.2172-2360G>C | |
| NM_175850.2:c.2272G>C | NP_787046.1:p.Ala758Pro | |
| XM_011528653.1:c.2208-2360G>C | XP_011526955.1:n.2208-2360G>C | |
| XM_011528654.1:c.2082-2360G>C | XP_011526956.1:n.2082-2360G>C | |
| XR_936510.1:n.2263G>C | ||
| XR_936511.1:n.2199-2360G>C | ||
| XR_936512.1:n.2138G>C | ||
| XM_011528653.2:c.2208-2360G>C | XP_011526955.1:n.2208-2360G>C | |
| XM_011528654.2:c.2082-2360G>C | XP_011526956.1:n.2082-2360G>C | |
| XR_936510.2:n.2274G>C | ||
| XR_936511.2:n.2210-2360G>C | ||
| XR_936512.2:n.2150G>C | ||
| NM_001207055.2:c.2046-2360G>C | NP_001193984.1:n.2046-2360G>C | |
| NM_001207056.2:c.1944-2360G>C | NP_001193985.1:n.1944-2360G>C | |
| NM_006892.4:c.2296G>C MANE Select | NP_008823.1:p.Ala766Pro | |
| NM_175848.2:c.2236G>C | NP_787044.1:p.Ala746Pro | |
| NM_175849.2:c.2172-2360G>C | NP_787045.1:n.2172-2360G>C | |
| NM_175850.3:c.2272G>C | NP_787046.1:p.Ala758Pro |