Linked Data
ClinVar Variation Id:
1166369
ClinVar RCV Id:
RCV001514522
dbSNP Id:
rs560320736
ExAC:
20:31395592 C / T
gnomAD v2:
20-31395592-C-T
gnomAD v3:
20-32807786-C-T
gnomAD v4:
20-32807786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807786C>T , CM000682.2:g.32807786C>T | GRCh38 |
| NC_000020.10:g.31395592C>T , CM000682.1:g.31395592C>T | GRCh37 |
| NC_000020.9:g.30859253C>T | NCBI36 |
| NG_007290.1:g.50402C>T , LRG_56:g.50402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1396C>T | ENSP00000512497.1:n.*1396C>T | |
| ENST00000696232.1:c.2256C>T | ENSP00000512498.1:p.Tyr752= | |
| ENST00000696233.1:c.*999C>T | ENSP00000512499.1:n.*999C>T | |
| ENST00000696238.1:c.*1188C>T | ENSP00000512502.1:n.*1188C>T | |
| ENST00000696239.1:c.2226C>T | ENSP00000512503.1:p.Tyr742= | |
| ENST00000696245.1:n.470C>T | ||
| ENST00000201963.3:c.2421C>T | ENSP00000201963.3:p.Tyr807= | |
| ENST00000328111.6:c.2445C>T MANE Select | ENSP00000328547.2:p.Tyr815= | |
| ENST00000348286.6:c.2196C>T | ENSP00000337764.2:p.Tyr732= | |
| ENST00000353855.6:c.2385C>T | ENSP00000313397.4:p.Tyr795= | |
| ENST00000443239.7:c.2070C>T | ENSP00000403169.2:p.Tyr690= | |
| ENST00000456297.6:c.1968C>T | ENSP00000412305.1:p.Tyr656= | |
| NM_001207055.1:c.2070C>T | NP_001193984.1:p.Tyr690= | |
| NM_001207056.1:c.1968C>T | NP_001193985.1:p.Tyr656= | |
| NM_006892.3:c.2445C>T , LRG_56t1:c.2445C>T | NP_008823.1:p.Tyr815= | |
| NM_175848.1:c.2385C>T | NP_787044.1:p.Tyr795= | |
| NM_175849.1:c.2196C>T | NP_787045.1:p.Tyr732= | |
| NM_175850.2:c.2421C>T | NP_787046.1:p.Tyr807= | |
| XM_011528653.1:c.2232C>T | XP_011526955.1:p.Tyr744= | |
| XM_011528654.1:c.2106C>T | XP_011526956.1:p.Tyr702= | |
| XR_936511.1:n.2223C>T | ||
| XM_011528653.2:c.2232C>T | XP_011526955.1:p.Tyr744= | |
| XM_011528654.2:c.2106C>T | XP_011526956.1:p.Tyr702= | |
| XR_936511.2:n.2234C>T | ||
| NM_001207055.2:c.2070C>T | NP_001193984.1:p.Tyr690= | |
| NM_001207056.2:c.1968C>T | NP_001193985.1:p.Tyr656= | |
| NM_006892.4:c.2445C>T MANE Select | NP_008823.1:p.Tyr815= | |
| NM_175848.2:c.2385C>T | NP_787044.1:p.Tyr795= | |
| NM_175849.2:c.2196C>T | NP_787045.1:p.Tyr732= | |
| NM_175850.3:c.2421C>T | NP_787046.1:p.Tyr807= |