ClinGen Classification:
Classification
Uncertain Significance
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34799420T>G , CM000683.2:g.34799420T>G | GRCh38 |
| NC_000021.8:g.36171717T>G , CM000683.1:g.36171717T>G | GRCh37 |
| NC_000021.7:g.35093587T>G | NCBI36 |
| NG_011402.2:g.1190292A>C , LRG_482:g.1190292A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.848A>C MANE Select | ENSP00000501943.1:p.Gln283Pro | |
| ENST00000300305.7:c.848A>C | ENSP00000300305.3:p.Gln283Pro | |
| ENST00000344691.8:c.767A>C | ENSP00000340690.4:p.Gln256Pro | |
| ENST00000399240.5:c.575A>C | ENSP00000382184.1:p.Gln192Pro | |
| ENST00000437180.5:c.848A>C | ENSP00000409227.1:p.Gln283Pro | |
| ENST00000482318.5:c.*438A>C | ENSP00000477067.1:n.*438A>C | |
| NM_001001890.2:c.767A>C | NP_001001890.1:p.Gln256Pro | |
| NM_001754.4:c.848A>C , LRG_482t1:c.848A>C | NP_001745.2:p.Gln283Pro | |
| XM_005261068.3:c.812A>C | XP_005261125.1:p.Gln271Pro | |
| XM_005261069.3:c.656A>C | XP_005261126.1:p.Gln219Pro | |
| XM_011529766.1:c.848A>C | XP_011528068.1:p.Gln283Pro | |
| XM_011529767.1:c.809A>C | XP_011528069.1:p.Gln270Pro | |
| XM_011529768.1:c.617A>C | XP_011528070.1:p.Gln206Pro | |
| XR_937576.1:n.1027A>C | ||
| XM_005261069.4:c.656A>C | XP_005261126.1:p.Gln219Pro | |
| XM_011529766.2:c.848A>C | XP_011528068.1:p.Gln283Pro | |
| XM_011529767.2:c.809A>C | XP_011528069.1:p.Gln270Pro | |
| XM_011529768.2:c.617A>C | XP_011528070.1:p.Gln206Pro | |
| XM_017028487.1:c.695A>C | XP_016883976.1:p.Gln232Pro | |
| XR_937576.2:n.1074A>C | ||
| NM_001001890.3:c.767A>C | NP_001001890.1:p.Gln256Pro | |
| NM_001754.5:c.848A>C MANE Select | NP_001745.2:p.Gln283Pro |