Linked Data
ClinVar Variation Id:
6745
ClinVar RCV Id:
RCV000007137
dbSNP Id:
rs121908947
PubMed:
PMID:12239717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32789007T>C , CM000682.2:g.32789007T>C | GRCh38 |
| NC_000020.10:g.31376813T>C , CM000682.1:g.31376813T>C | GRCh37 |
| NC_000020.9:g.30840474T>C | NCBI36 |
| NG_007290.1:g.31623T>C , LRG_56:g.31623T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696231.1:c.808T>C | ENSP00000512497.1:p.Ser270Pro | |
| ENST00000696232.1:c.808T>C | ENSP00000512498.1:p.Ser270Pro | |
| ENST00000696233.1:c.808T>C | ENSP00000512499.1:p.Ser270Pro | |
| ENST00000696234.1:n.792T>C | ||
| ENST00000696235.1:c.682T>C | ENSP00000512500.1:p.Ser228Pro | |
| ENST00000696236.1:c.682T>C | ENSP00000512501.1:p.Ser228Pro | |
| ENST00000696238.1:c.808T>C | ENSP00000512502.1:p.Ser270Pro | |
| ENST00000696239.1:c.654+1556T>C | ENSP00000512503.1:n.654+1556T>C | |
| ENST00000201963.3:c.844T>C | ENSP00000201963.3:p.Ser282Pro | |
| ENST00000328111.6:c.808T>C MANE Select | ENSP00000328547.2:p.Ser270Pro | |
| ENST00000348286.6:c.808T>C | ENSP00000337764.2:p.Ser270Pro | |
| ENST00000353855.6:c.808T>C | ENSP00000313397.4:p.Ser270Pro | |
| ENST00000443239.7:c.682T>C | ENSP00000403169.2:p.Ser228Pro | |
| ENST00000456297.6:c.580T>C | ENSP00000412305.1:p.Ser194Pro | |
| NM_001207055.1:c.682T>C | NP_001193984.1:p.Ser228Pro | |
| NM_001207056.1:c.580T>C | NP_001193985.1:p.Ser194Pro | |
| NM_006892.3:c.808T>C , LRG_56t1:c.808T>C | NP_008823.1:p.Ser270Pro | |
| NM_175848.1:c.808T>C | NP_787044.1:p.Ser270Pro | |
| NM_175849.1:c.808T>C | NP_787045.1:p.Ser270Pro | |
| NM_175850.2:c.844T>C | NP_787046.1:p.Ser282Pro | |
| XM_011528653.1:c.844T>C | XP_011526955.1:p.Ser282Pro | |
| XM_011528654.1:c.718T>C | XP_011526956.1:p.Ser240Pro | |
| XR_936510.1:n.980T>C | ||
| XR_936511.1:n.980T>C | ||
| XR_936512.1:n.855T>C | ||
| XM_011528653.2:c.844T>C | XP_011526955.1:p.Ser282Pro | |
| XM_011528654.2:c.718T>C | XP_011526956.1:p.Ser240Pro | |
| XR_936510.2:n.991T>C | ||
| XR_936511.2:n.991T>C | ||
| XR_936512.2:n.867T>C | ||
| NM_001207055.2:c.682T>C | NP_001193984.1:p.Ser228Pro | |
| NM_001207056.2:c.580T>C | NP_001193985.1:p.Ser194Pro | |
| NM_006892.4:c.808T>C MANE Select | NP_008823.1:p.Ser270Pro | |
| NM_175848.2:c.808T>C | NP_787044.1:p.Ser270Pro | |
| NM_175849.2:c.808T>C | NP_787045.1:p.Ser270Pro | |
| NM_175850.3:c.844T>C | NP_787046.1:p.Ser282Pro |