Linked Data
ClinVar Variation Id:
851466
ClinVar RCV Id:
RCV001055867
dbSNP Id:
rs201657518
gnomAD v2:
20-31388072-G-A
gnomAD v3:
20-32800266-G-A
gnomAD v4:
20-32800266-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800266G>A , CM000682.2:g.32800266G>A | GRCh38 |
| NC_000020.10:g.31388072G>A , CM000682.1:g.31388072G>A | GRCh37 |
| NC_000020.9:g.30851733G>A | NCBI36 |
| NG_007290.1:g.42882G>A , LRG_56:g.42882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*824G>A | ENSP00000512497.1:n.*824G>A | |
| ENST00000696232.1:c.1873G>A | ENSP00000512498.1:p.Val625Met | |
| ENST00000696233.1:c.*616G>A | ENSP00000512499.1:n.*616G>A | |
| ENST00000696235.1:c.*521G>A | ENSP00000512500.1:n.*521G>A | |
| ENST00000696238.1:c.*616G>A | ENSP00000512502.1:n.*616G>A | |
| ENST00000696239.1:c.1654G>A | ENSP00000512503.1:p.Val552Met | |
| ENST00000201963.3:c.1849G>A | ENSP00000201963.3:p.Val617Met | |
| ENST00000328111.6:c.1873G>A MANE Select | ENSP00000328547.2:p.Val625Met | |
| ENST00000348286.6:c.1813G>A | ENSP00000337764.2:p.Val605Met | |
| ENST00000353855.6:c.1813G>A | ENSP00000313397.4:p.Val605Met | |
| ENST00000443239.7:c.1687G>A | ENSP00000403169.2:p.Val563Met | |
| ENST00000456297.6:c.1585G>A | ENSP00000412305.1:p.Val529Met | |
| NM_001207055.1:c.1687G>A | NP_001193984.1:p.Val563Met | |
| NM_001207056.1:c.1585G>A | NP_001193985.1:p.Val529Met | |
| NM_006892.3:c.1873G>A , LRG_56t1:c.1873G>A | NP_008823.1:p.Val625Met | |
| NM_175848.1:c.1813G>A | NP_787044.1:p.Val605Met | |
| NM_175849.1:c.1813G>A | NP_787045.1:p.Val605Met | |
| NM_175850.2:c.1849G>A | NP_787046.1:p.Val617Met | |
| XM_011528653.1:c.1849G>A | XP_011526955.1:p.Val617Met | |
| XM_011528654.1:c.1723G>A | XP_011526956.1:p.Val575Met | |
| XR_936510.1:n.1840G>A | ||
| XR_936511.1:n.1840G>A | ||
| XR_936512.1:n.1715G>A | ||
| XM_011528653.2:c.1849G>A | XP_011526955.1:p.Val617Met | |
| XM_011528654.2:c.1723G>A | XP_011526956.1:p.Val575Met | |
| XR_936510.2:n.1851G>A | ||
| XR_936511.2:n.1851G>A | ||
| XR_936512.2:n.1727G>A | ||
| NM_001207055.2:c.1687G>A | NP_001193984.1:p.Val563Met | |
| NM_001207056.2:c.1585G>A | NP_001193985.1:p.Val529Met | |
| NM_006892.4:c.1873G>A MANE Select | NP_008823.1:p.Val625Met | |
| NM_175848.2:c.1813G>A | NP_787044.1:p.Val605Met | |
| NM_175849.2:c.1813G>A | NP_787045.1:p.Val605Met | |
| NM_175850.3:c.1849G>A | NP_787046.1:p.Val617Met |