Linked Data
ClinVar Variation Id:
2838289
ClinVar RCV Id:
RCV003758386
MyVariant Identifiers:
chr20:g.31388011T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800205T>G , CM000682.2:g.32800205T>G | GRCh38 |
| NC_000020.10:g.31388011T>G , CM000682.1:g.31388011T>G | GRCh37 |
| NC_000020.9:g.30851672T>G | NCBI36 |
| NG_007290.1:g.42821T>G , LRG_56:g.42821T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*763T>G | ENSP00000512497.1:n.*763T>G | |
| ENST00000696232.1:c.1812T>G | ENSP00000512498.1:p.Ser604= | |
| ENST00000696233.1:c.*555T>G | ENSP00000512499.1:n.*555T>G | |
| ENST00000696235.1:c.*460T>G | ENSP00000512500.1:n.*460T>G | |
| ENST00000696238.1:c.*555T>G | ENSP00000512502.1:n.*555T>G | |
| ENST00000696239.1:c.1593T>G | ENSP00000512503.1:p.Ser531= | |
| ENST00000201963.3:c.1788T>G | ENSP00000201963.3:p.Ser596= | |
| ENST00000328111.6:c.1812T>G MANE Select | ENSP00000328547.2:p.Ser604= | |
| ENST00000348286.6:c.1752T>G | ENSP00000337764.2:p.Ser584= | |
| ENST00000353855.6:c.1752T>G | ENSP00000313397.4:p.Ser584= | |
| ENST00000443239.7:c.1626T>G | ENSP00000403169.2:p.Ser542= | |
| ENST00000456297.6:c.1524T>G | ENSP00000412305.1:p.Ser508= | |
| NM_001207055.1:c.1626T>G | NP_001193984.1:p.Ser542= | |
| NM_001207056.1:c.1524T>G | NP_001193985.1:p.Ser508= | |
| NM_006892.3:c.1812T>G , LRG_56t1:c.1812T>G | NP_008823.1:p.Ser604= | |
| NM_175848.1:c.1752T>G | NP_787044.1:p.Ser584= | |
| NM_175849.1:c.1752T>G | NP_787045.1:p.Ser584= | |
| NM_175850.2:c.1788T>G | NP_787046.1:p.Ser596= | |
| XM_011528653.1:c.1788T>G | XP_011526955.1:p.Ser596= | |
| XM_011528654.1:c.1662T>G | XP_011526956.1:p.Ser554= | |
| XR_936510.1:n.1779T>G | ||
| XR_936511.1:n.1779T>G | ||
| XR_936512.1:n.1654T>G | ||
| XM_011528653.2:c.1788T>G | XP_011526955.1:p.Ser596= | |
| XM_011528654.2:c.1662T>G | XP_011526956.1:p.Ser554= | |
| XR_936510.2:n.1790T>G | ||
| XR_936511.2:n.1790T>G | ||
| XR_936512.2:n.1666T>G | ||
| NM_001207055.2:c.1626T>G | NP_001193984.1:p.Ser542= | |
| NM_001207056.2:c.1524T>G | NP_001193985.1:p.Ser508= | |
| NM_006892.4:c.1812T>G MANE Select | NP_008823.1:p.Ser604= | |
| NM_175848.2:c.1752T>G | NP_787044.1:p.Ser584= | |
| NM_175849.2:c.1752T>G | NP_787045.1:p.Ser584= | |
| NM_175850.3:c.1788T>G | NP_787046.1:p.Ser596= |