Linked Data
ClinVar Variation Id:
750677
dbSNP Id:
rs140714949
ExAC:
20:31386317 C / T
gnomAD v2:
20-31386317-C-T
gnomAD v3:
20-32798511-C-T
gnomAD v4:
20-32798511-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32798511C>T , CM000682.2:g.32798511C>T | GRCh38 |
| NC_000020.10:g.31386317C>T , CM000682.1:g.31386317C>T | GRCh37 |
| NC_000020.9:g.30849978C>T | NCBI36 |
| NG_007290.1:g.41127C>T , LRG_56:g.41127C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*493C>T | ENSP00000512497.1:n.*493C>T | |
| ENST00000696232.1:c.1542C>T | ENSP00000512498.1:p.Ala514= | |
| ENST00000696233.1:c.*285C>T | ENSP00000512499.1:n.*285C>T | |
| ENST00000696235.1:c.*190C>T | ENSP00000512500.1:n.*190C>T | |
| ENST00000696236.1:c.*493C>T | ENSP00000512501.1:n.*493C>T | |
| ENST00000696238.1:c.*285C>T | ENSP00000512502.1:n.*285C>T | |
| ENST00000696239.1:c.1323C>T | ENSP00000512503.1:p.Ala441= | |
| ENST00000696242.1:n.684C>T | ||
| ENST00000696244.1:n.122C>T | ||
| ENST00000201963.3:c.1518C>T | ENSP00000201963.3:p.Ala506= | |
| ENST00000328111.6:c.1542C>T MANE Select | ENSP00000328547.2:p.Ala514= | |
| ENST00000348286.6:c.1482C>T | ENSP00000337764.2:p.Ala494= | |
| ENST00000353855.6:c.1482C>T | ENSP00000313397.4:p.Ala494= | |
| ENST00000443239.7:c.1356C>T | ENSP00000403169.2:p.Ala452= | |
| ENST00000456297.6:c.1254C>T | ENSP00000412305.1:p.Ala418= | |
| NM_001207055.1:c.1356C>T | NP_001193984.1:p.Ala452= | |
| NM_001207056.1:c.1254C>T | NP_001193985.1:p.Ala418= | |
| NM_006892.3:c.1542C>T , LRG_56t1:c.1542C>T | NP_008823.1:p.Ala514= | |
| NM_175848.1:c.1482C>T | NP_787044.1:p.Ala494= | |
| NM_175849.1:c.1482C>T | NP_787045.1:p.Ala494= | |
| NM_175850.2:c.1518C>T | NP_787046.1:p.Ala506= | |
| XM_011528653.1:c.1518C>T | XP_011526955.1:p.Ala506= | |
| XM_011528654.1:c.1392C>T | XP_011526956.1:p.Ala464= | |
| XR_936510.1:n.1509C>T | ||
| XR_936511.1:n.1509C>T | ||
| XR_936512.1:n.1384C>T | ||
| XM_011528653.2:c.1518C>T | XP_011526955.1:p.Ala506= | |
| XM_011528654.2:c.1392C>T | XP_011526956.1:p.Ala464= | |
| XR_936510.2:n.1520C>T | ||
| XR_936511.2:n.1520C>T | ||
| XR_936512.2:n.1396C>T | ||
| NM_001207055.2:c.1356C>T | NP_001193984.1:p.Ala452= | |
| NM_001207056.2:c.1254C>T | NP_001193985.1:p.Ala418= | |
| NM_006892.4:c.1542C>T MANE Select | NP_008823.1:p.Ala514= | |
| NM_175848.2:c.1482C>T | NP_787044.1:p.Ala494= | |
| NM_175849.2:c.1482C>T | NP_787045.1:p.Ala494= | |
| NM_175850.3:c.1518C>T | NP_787046.1:p.Ala506= |