Linked Data
ClinVar Variation Id:
338187
ClinVar RCV Id:
RCV000288490
dbSNP Id:
rs886056619
gnomAD v2:
20-31395799-T-G
gnomAD v3:
20-32807993-T-G
gnomAD v4:
20-32807993-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807993T>G , CM000682.2:g.32807993T>G | GRCh38 |
| NC_000020.10:g.31395799T>G , CM000682.1:g.31395799T>G | GRCh37 |
| NC_000020.9:g.30859460T>G | NCBI36 |
| NG_007290.1:g.50609T>G , LRG_56:g.50609T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1603T>G | ENSP00000512497.1:n.*1603T>G | |
| ENST00000696232.1:c.*90T>G | ENSP00000512498.1:n.*90T>G | |
| ENST00000696233.1:c.*1206T>G | ENSP00000512499.1:n.*1206T>G | |
| ENST00000696238.1:c.*1395T>G | ENSP00000512502.1:n.*1395T>G | |
| ENST00000696245.1:n.677T>G | ||
| ENST00000201963.3:c.*90T>G | ENSP00000201963.3:n.*90T>G | |
| ENST00000328111.6:c.*90T>G MANE Select | ENSP00000328547.2:n.*90T>G | |
| ENST00000348286.6:c.*90T>G | ENSP00000337764.2:n.*90T>G | |
| ENST00000353855.6:c.*90T>G | ENSP00000313397.4:n.*90T>G | |
| ENST00000443239.7:c.*90T>G | ENSP00000403169.2:n.*90T>G | |
| ENST00000456297.6:c.*90T>G | ENSP00000412305.1:n.*90T>G | |
| NM_001207055.1:c.*90T>G | NP_001193984.1:n.*90T>G | |
| NM_001207056.1:c.*90T>G | NP_001193985.1:n.*90T>G | |
| NM_006892.3:c.*90T>G , LRG_56t1:c.*90T>G | NP_008823.1:n.*90T>G | |
| NM_175848.1:c.*90T>G | NP_787044.1:n.*90T>G | |
| NM_175849.1:c.*90T>G | NP_787045.1:n.*90T>G | |
| NM_175850.2:c.*90T>G | NP_787046.1:n.*90T>G | |
| XM_011528653.1:c.*90T>G | XP_011526955.1:n.*90T>G | |
| XM_011528654.1:c.*90T>G | XP_011526956.1:n.*90T>G | |
| XR_936511.1:n.2430T>G | ||
| XM_011528653.2:c.*90T>G | XP_011526955.1:n.*90T>G | |
| XM_011528654.2:c.*90T>G | XP_011526956.1:n.*90T>G | |
| XR_936511.2:n.2441T>G | ||
| NM_001207055.2:c.*90T>G | NP_001193984.1:n.*90T>G | |
| NM_001207056.2:c.*90T>G | NP_001193985.1:n.*90T>G | |
| NM_006892.4:c.*90T>G MANE Select | NP_008823.1:n.*90T>G | |
| NM_175848.2:c.*90T>G | NP_787044.1:n.*90T>G | |
| NM_175849.2:c.*90T>G | NP_787045.1:n.*90T>G | |
| NM_175850.3:c.*90T>G | NP_787046.1:n.*90T>G |