Linked Data
dbSNP Id:
rs576798456
ExAC:
20:31388054 G / A
gnomAD v2:
20-31388054-G-A
gnomAD v3:
20-32800248-G-A
gnomAD v4:
20-32800248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32800248G>A , CM000682.2:g.32800248G>A | GRCh38 |
| NC_000020.10:g.31388054G>A , CM000682.1:g.31388054G>A | GRCh37 |
| NC_000020.9:g.30851715G>A | NCBI36 |
| NG_007290.1:g.42864G>A , LRG_56:g.42864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*806G>A | ENSP00000512497.1:n.*806G>A | |
| ENST00000696232.1:c.1855G>A | ENSP00000512498.1:p.Glu619Lys | |
| ENST00000696233.1:c.*598G>A | ENSP00000512499.1:n.*598G>A | |
| ENST00000696235.1:c.*503G>A | ENSP00000512500.1:n.*503G>A | |
| ENST00000696238.1:c.*598G>A | ENSP00000512502.1:n.*598G>A | |
| ENST00000696239.1:c.1636G>A | ENSP00000512503.1:p.Glu546Lys | |
| ENST00000201963.3:c.1831G>A | ENSP00000201963.3:p.Glu611Lys | |
| ENST00000328111.6:c.1855G>A MANE Select | ENSP00000328547.2:p.Glu619Lys | |
| ENST00000348286.6:c.1795G>A | ENSP00000337764.2:p.Glu599Lys | |
| ENST00000353855.6:c.1795G>A | ENSP00000313397.4:p.Glu599Lys | |
| ENST00000443239.7:c.1669G>A | ENSP00000403169.2:p.Glu557Lys | |
| ENST00000456297.6:c.1567G>A | ENSP00000412305.1:p.Glu523Lys | |
| NM_001207055.1:c.1669G>A | NP_001193984.1:p.Glu557Lys | |
| NM_001207056.1:c.1567G>A | NP_001193985.1:p.Glu523Lys | |
| NM_006892.3:c.1855G>A , LRG_56t1:c.1855G>A | NP_008823.1:p.Glu619Lys | |
| NM_175848.1:c.1795G>A | NP_787044.1:p.Glu599Lys | |
| NM_175849.1:c.1795G>A | NP_787045.1:p.Glu599Lys | |
| NM_175850.2:c.1831G>A | NP_787046.1:p.Glu611Lys | |
| XM_011528653.1:c.1831G>A | XP_011526955.1:p.Glu611Lys | |
| XM_011528654.1:c.1705G>A | XP_011526956.1:p.Glu569Lys | |
| XR_936510.1:n.1822G>A | ||
| XR_936511.1:n.1822G>A | ||
| XR_936512.1:n.1697G>A | ||
| XM_011528653.2:c.1831G>A | XP_011526955.1:p.Glu611Lys | |
| XM_011528654.2:c.1705G>A | XP_011526956.1:p.Glu569Lys | |
| XR_936510.2:n.1833G>A | ||
| XR_936511.2:n.1833G>A | ||
| XR_936512.2:n.1709G>A | ||
| NM_001207055.2:c.1669G>A | NP_001193984.1:p.Glu557Lys | |
| NM_001207056.2:c.1567G>A | NP_001193985.1:p.Glu523Lys | |
| NM_006892.4:c.1855G>A MANE Select | NP_008823.1:p.Glu619Lys | |
| NM_175848.2:c.1795G>A | NP_787044.1:p.Glu599Lys | |
| NM_175849.2:c.1795G>A | NP_787045.1:p.Glu599Lys | |
| NM_175850.3:c.1831G>A | NP_787046.1:p.Glu611Lys |