Linked Data
dbSNP Id:
rs773561827
ExAC:
20:31395707 T / C
gnomAD v2:
20-31395707-T-C
gnomAD v4:
20-32807901-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807901T>C , CM000682.2:g.32807901T>C | GRCh38 |
| NC_000020.10:g.31395707T>C , CM000682.1:g.31395707T>C | GRCh37 |
| NC_000020.9:g.30859368T>C | NCBI36 |
| NG_007290.1:g.50517T>C , LRG_56:g.50517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1511T>C | ENSP00000512497.1:n.*1511T>C | |
| ENST00000696232.1:c.2371T>C | ENSP00000512498.1:p.Ter791Gln | |
| ENST00000696233.1:c.*1114T>C | ENSP00000512499.1:n.*1114T>C | |
| ENST00000696238.1:c.*1303T>C | ENSP00000512502.1:n.*1303T>C | |
| ENST00000696239.1:c.2341T>C | ENSP00000512503.1:p.Ter781Gln | |
| ENST00000696245.1:n.585T>C | ||
| ENST00000201963.3:c.2536T>C | ENSP00000201963.3:p.Ter846Gln | |
| ENST00000328111.6:c.2560T>C MANE Select | ENSP00000328547.2:p.Ter854Gln | |
| ENST00000348286.6:c.2311T>C | ENSP00000337764.2:p.Ter771Gln | |
| ENST00000353855.6:c.2500T>C | ENSP00000313397.4:p.Ter834Gln | |
| ENST00000443239.7:c.2185T>C | ENSP00000403169.2:p.Ter729Gln | |
| ENST00000456297.6:c.2083T>C | ENSP00000412305.1:p.Ter695Gln | |
| NM_001207055.1:c.2185T>C | NP_001193984.1:p.Ter729Gln | |
| NM_001207056.1:c.2083T>C | NP_001193985.1:p.Ter695Gln | |
| NM_006892.3:c.2560T>C , LRG_56t1:c.2560T>C | NP_008823.1:p.Ter854Gln | |
| NM_175848.1:c.2500T>C | NP_787044.1:p.Ter834Gln | |
| NM_175849.1:c.2311T>C | NP_787045.1:p.Ter771Gln | |
| NM_175850.2:c.2536T>C | NP_787046.1:p.Ter846Gln | |
| XM_011528653.1:c.2347T>C | XP_011526955.1:p.Ter783Gln | |
| XM_011528654.1:c.2221T>C | XP_011526956.1:p.Ter741Gln | |
| XR_936511.1:n.2338T>C | ||
| XM_011528653.2:c.2347T>C | XP_011526955.1:p.Ter783Gln | |
| XM_011528654.2:c.2221T>C | XP_011526956.1:p.Ter741Gln | |
| XR_936511.2:n.2349T>C | ||
| NM_001207055.2:c.2185T>C | NP_001193984.1:p.Ter729Gln | |
| NM_001207056.2:c.2083T>C | NP_001193985.1:p.Ter695Gln | |
| NM_006892.4:c.2560T>C MANE Select | NP_008823.1:p.Ter854Gln | |
| NM_175848.2:c.2500T>C | NP_787044.1:p.Ter834Gln | |
| NM_175849.2:c.2311T>C | NP_787045.1:p.Ter771Gln | |
| NM_175850.3:c.2536T>C | NP_787046.1:p.Ter846Gln |