Linked Data
dbSNP Id:
rs781183120
ExAC:
20:31395645 C / T
gnomAD v2:
20-31395645-C-T
gnomAD v4:
20-32807839-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32807839C>T , CM000682.2:g.32807839C>T | GRCh38 |
| NC_000020.10:g.31395645C>T , CM000682.1:g.31395645C>T | GRCh37 |
| NC_000020.9:g.30859306C>T | NCBI36 |
| NG_007290.1:g.50455C>T , LRG_56:g.50455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696231.1:c.*1449C>T | ENSP00000512497.1:n.*1449C>T | |
| ENST00000696232.1:c.2309C>T | ENSP00000512498.1:p.Ser770Phe | |
| ENST00000696233.1:c.*1052C>T | ENSP00000512499.1:n.*1052C>T | |
| ENST00000696238.1:c.*1241C>T | ENSP00000512502.1:n.*1241C>T | |
| ENST00000696239.1:c.2279C>T | ENSP00000512503.1:p.Ser760Phe | |
| ENST00000696245.1:n.523C>T | ||
| ENST00000201963.3:c.2474C>T | ENSP00000201963.3:p.Ser825Phe | |
| ENST00000328111.6:c.2498C>T MANE Select | ENSP00000328547.2:p.Ser833Phe | |
| ENST00000348286.6:c.2249C>T | ENSP00000337764.2:p.Ser750Phe | |
| ENST00000353855.6:c.2438C>T | ENSP00000313397.4:p.Ser813Phe | |
| ENST00000443239.7:c.2123C>T | ENSP00000403169.2:p.Ser708Phe | |
| ENST00000456297.6:c.2021C>T | ENSP00000412305.1:p.Ser674Phe | |
| NM_001207055.1:c.2123C>T | NP_001193984.1:p.Ser708Phe | |
| NM_001207056.1:c.2021C>T | NP_001193985.1:p.Ser674Phe | |
| NM_006892.3:c.2498C>T , LRG_56t1:c.2498C>T | NP_008823.1:p.Ser833Phe | |
| NM_175848.1:c.2438C>T | NP_787044.1:p.Ser813Phe | |
| NM_175849.1:c.2249C>T | NP_787045.1:p.Ser750Phe | |
| NM_175850.2:c.2474C>T | NP_787046.1:p.Ser825Phe | |
| XM_011528653.1:c.2285C>T | XP_011526955.1:p.Ser762Phe | |
| XM_011528654.1:c.2159C>T | XP_011526956.1:p.Ser720Phe | |
| XR_936511.1:n.2276C>T | ||
| XM_011528653.2:c.2285C>T | XP_011526955.1:p.Ser762Phe | |
| XM_011528654.2:c.2159C>T | XP_011526956.1:p.Ser720Phe | |
| XR_936511.2:n.2287C>T | ||
| NM_001207055.2:c.2123C>T | NP_001193984.1:p.Ser708Phe | |
| NM_001207056.2:c.2021C>T | NP_001193985.1:p.Ser674Phe | |
| NM_006892.4:c.2498C>T MANE Select | NP_008823.1:p.Ser833Phe | |
| NM_175848.2:c.2438C>T | NP_787044.1:p.Ser813Phe | |
| NM_175849.2:c.2249C>T | NP_787045.1:p.Ser750Phe | |
| NM_175850.3:c.2474C>T | NP_787046.1:p.Ser825Phe |