Linked Data
ClinVar Variation Id:
338164
dbSNP Id:
rs148646143
ExAC:
20:31383307 G / A
gnomAD v2:
20-31383307-G-A
gnomAD v3:
20-32795501-G-A
gnomAD v4:
20-32795501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32795501G>A , CM000682.2:g.32795501G>A | GRCh38 |
| NC_000020.10:g.31383307G>A , CM000682.1:g.31383307G>A | GRCh37 |
| NC_000020.9:g.30846968G>A | NCBI36 |
| NG_007290.1:g.38117G>A , LRG_56:g.38117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*170G>A | ENSP00000512497.1:n.*170G>A | |
| ENST00000696232.1:c.1219G>A | ENSP00000512498.1:p.Gly407Ser | |
| ENST00000696233.1:c.1159G>A | ENSP00000512499.1:p.Gly387Ser | |
| ENST00000696235.1:c.888G>A | ENSP00000512500.1:p.Thr296= | |
| ENST00000696236.1:c.*170G>A | ENSP00000512501.1:n.*170G>A | |
| ENST00000696238.1:c.1159G>A | ENSP00000512502.1:p.Gly387Ser | |
| ENST00000696239.1:c.1000G>A | ENSP00000512503.1:p.Gly334Ser | |
| ENST00000696241.1:n.508G>A | ||
| ENST00000696242.1:n.361G>A | ||
| ENST00000696243.1:n.83G>A | ||
| ENST00000201963.3:c.1195G>A | ENSP00000201963.3:p.Gly399Ser | |
| ENST00000328111.6:c.1219G>A MANE Select | ENSP00000328547.2:p.Gly407Ser | |
| ENST00000348286.6:c.1159G>A | ENSP00000337764.2:p.Gly387Ser | |
| ENST00000353855.6:c.1159G>A | ENSP00000313397.4:p.Gly387Ser | |
| ENST00000443239.7:c.1033G>A | ENSP00000403169.2:p.Gly345Ser | |
| ENST00000456297.6:c.931G>A | ENSP00000412305.1:p.Gly311Ser | |
| NM_001207055.1:c.1033G>A | NP_001193984.1:p.Gly345Ser | |
| NM_001207056.1:c.931G>A | NP_001193985.1:p.Gly311Ser | |
| NM_006892.3:c.1219G>A , LRG_56t1:c.1219G>A | NP_008823.1:p.Gly407Ser | |
| NM_175848.1:c.1159G>A | NP_787044.1:p.Gly387Ser | |
| NM_175849.1:c.1159G>A | NP_787045.1:p.Gly387Ser | |
| NM_175850.2:c.1195G>A | NP_787046.1:p.Gly399Ser | |
| XM_011528653.1:c.1195G>A | XP_011526955.1:p.Gly399Ser | |
| XM_011528654.1:c.1069G>A | XP_011526956.1:p.Gly357Ser | |
| XR_936510.1:n.1186G>A | ||
| XR_936511.1:n.1186G>A | ||
| XR_936512.1:n.1061G>A | ||
| XM_011528653.2:c.1195G>A | XP_011526955.1:p.Gly399Ser | |
| XM_011528654.2:c.1069G>A | XP_011526956.1:p.Gly357Ser | |
| XR_936510.2:n.1197G>A | ||
| XR_936511.2:n.1197G>A | ||
| XR_936512.2:n.1073G>A | ||
| NM_001207055.2:c.1033G>A | NP_001193984.1:p.Gly345Ser | |
| NM_001207056.2:c.931G>A | NP_001193985.1:p.Gly311Ser | |
| NM_006892.4:c.1219G>A MANE Select | NP_008823.1:p.Gly407Ser | |
| NM_175848.2:c.1159G>A | NP_787044.1:p.Gly387Ser | |
| NM_175849.2:c.1159G>A | NP_787045.1:p.Gly387Ser | |
| NM_175850.3:c.1195G>A | NP_787046.1:p.Gly399Ser |