Linked Data
ClinVar Variation Id:
530713
dbSNP Id:
rs143847495
ExAC:
20:31389229 G / A
gnomAD v2:
20-31389229-G-A
gnomAD v3:
20-32801423-G-A
gnomAD v4:
20-32801423-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32801423G>A , CM000682.2:g.32801423G>A | GRCh38 |
| NC_000020.10:g.31389229G>A , CM000682.1:g.31389229G>A | GRCh37 |
| NC_000020.9:g.30852890G>A | NCBI36 |
| NG_007290.1:g.44039G>A , LRG_56:g.44039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1093G>A | ENSP00000512497.1:n.*1093G>A | |
| ENST00000696232.1:c.2142G>A | ENSP00000512498.1:p.Leu714= | |
| ENST00000696233.1:c.*885G>A | ENSP00000512499.1:n.*885G>A | |
| ENST00000696238.1:c.*885G>A | ENSP00000512502.1:n.*885G>A | |
| ENST00000696239.1:c.1923G>A | ENSP00000512503.1:p.Leu641= | |
| ENST00000696245.1:n.237G>A | ||
| ENST00000201963.3:c.2118G>A | ENSP00000201963.3:p.Leu706= | |
| ENST00000328111.6:c.2142G>A MANE Select | ENSP00000328547.2:p.Leu714= | |
| ENST00000348286.6:c.2082G>A | ENSP00000337764.2:p.Leu694= | |
| ENST00000353855.6:c.2082G>A | ENSP00000313397.4:p.Leu694= | |
| ENST00000443239.7:c.1956G>A | ENSP00000403169.2:p.Leu652= | |
| ENST00000456297.6:c.1854G>A | ENSP00000412305.1:p.Leu618= | |
| NM_001207055.1:c.1956G>A | NP_001193984.1:p.Leu652= | |
| NM_001207056.1:c.1854G>A | NP_001193985.1:p.Leu618= | |
| NM_006892.3:c.2142G>A , LRG_56t1:c.2142G>A | NP_008823.1:p.Leu714= | |
| NM_175848.1:c.2082G>A | NP_787044.1:p.Leu694= | |
| NM_175849.1:c.2082G>A | NP_787045.1:p.Leu694= | |
| NM_175850.2:c.2118G>A | NP_787046.1:p.Leu706= | |
| XM_011528653.1:c.2118G>A | XP_011526955.1:p.Leu706= | |
| XM_011528654.1:c.1992G>A | XP_011526956.1:p.Leu664= | |
| XR_936510.1:n.2109G>A | ||
| XR_936511.1:n.2109G>A | ||
| XR_936512.1:n.1984G>A | ||
| XM_011528653.2:c.2118G>A | XP_011526955.1:p.Leu706= | |
| XM_011528654.2:c.1992G>A | XP_011526956.1:p.Leu664= | |
| XR_936510.2:n.2120G>A | ||
| XR_936511.2:n.2120G>A | ||
| XR_936512.2:n.1996G>A | ||
| NM_001207055.2:c.1956G>A | NP_001193984.1:p.Leu652= | |
| NM_001207056.2:c.1854G>A | NP_001193985.1:p.Leu618= | |
| NM_006892.4:c.2142G>A MANE Select | NP_008823.1:p.Leu714= | |
| NM_175848.2:c.2082G>A | NP_787044.1:p.Leu694= | |
| NM_175849.2:c.2082G>A | NP_787045.1:p.Leu694= | |
| NM_175850.3:c.2118G>A | NP_787046.1:p.Leu706= |