Linked Data
ClinVar Variation Id:
2682362
ClinVar RCV Id:
RCV003479735
dbSNP Id:
rs1190793485
gnomAD v2:
6-32008808-T-C
gnomAD v3:
6-32041031-T-C
gnomAD v4:
6-32041031-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32041031T>C , CM000668.2:g.32041031T>C | GRCh38 |
| NC_000006.11:g.32008808T>C , CM000668.1:g.32008808T>C | GRCh37 |
| NC_000006.10:g.32116787T>C | NCBI36 |
| NG_007941.2:g.7724T>C | |
| NG_008337.2:g.73344A>G | |
| NG_007941.3:g.7727T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.1385T>C MANE Select | ENSP00000496625.1:p.Leu462Pro | |
| ENST00000418967.6:c.1385T>C | ENSP00000408860.2:p.Leu462Pro | |
| ENST00000435122.3:c.1295T>C | ENSP00000415043.2:p.Leu432Pro | |
| ENST00000479074.5:n.1526T>C | ||
| ENST00000479730.5:n.1501T>C | ||
| ENST00000483041.5:n.1554T>C | ||
| ENST00000486063.5:n.1364T>C | ||
| NM_000500.7:c.1385T>C | NP_000491.4:p.Leu462Pro | |
| NM_001128590.3:c.1295T>C | NP_001122062.3:p.Leu432Pro | |
| XM_011514314.1:c.980T>C | XP_011512616.1:p.Leu327Pro | |
| NM_000500.9:c.1385T>C MANE Select | NP_000491.4:p.Leu462Pro | |
| NM_001368143.1:c.980T>C | NP_001355072.1:p.Leu327Pro | |
| NM_001368144.1:c.980T>C | NP_001355073.1:p.Leu327Pro | |
| NM_001128590.4:c.1295T>C | NP_001122062.3:p.Leu432Pro | |
| NM_001368143.2:c.980T>C | NP_001355072.1:p.Leu327Pro | |
| NM_001368144.2:c.980T>C | NP_001355073.1:p.Leu327Pro |