Linked Data
ClinVar Variation Id:
1681491
ClinVar RCV Id:
RCV002239052
dbSNP Id:
rs768603403
ExAC:
1:33245823 T / C
gnomAD v2:
1-33245823-T-C
gnomAD v3:
1-32780222-T-C
gnomAD v4:
1-32780222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32780222T>C , CM000663.2:g.32780222T>C | GRCh38 |
| NC_000001.10:g.33245823T>C , CM000663.1:g.33245823T>C | GRCh37 |
| NC_000001.9:g.33018410T>C | NCBI36 |
| NG_008408.1:g.42811A>G , LRG_273:g.42811A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1050A>G | ENSP00000502019.1:p.Pro350= | |
| ENST00000373477.9:c.1197A>G MANE Select | ENSP00000362576.4:p.Pro399= | |
| ENST00000674629.1:c.*745A>G | ENSP00000502470.1:n.*745A>G | |
| ENST00000674654.1:c.*1157A>G | ENSP00000501729.1:n.*1157A>G | |
| ENST00000675785.1:c.1050A>G | ENSP00000502019.1:p.Pro350= | |
| ENST00000676297.1:c.*1371A>G | ENSP00000501596.1:n.*1371A>G | |
| ENST00000373477.8:c.1197A>G | ENSP00000362576.4:p.Pro399= | |
| ENST00000469100.5:n.1113A>G | ||
| ENST00000478828.1:n.664A>G | ||
| ENST00000487404.5:n.1507A>G | ||
| ENST00000490826.1:n.490A>G | ||
| NM_003680.3:c.1197A>G , LRG_273t1:c.1197A>G | NP_003671.1:p.Pro399= | |
| XM_011542347.1:c.567A>G | XP_011540649.1:p.Pro189= | |
| XM_011542348.1:c.567A>G | XP_011540650.1:p.Pro189= | |
| XM_011542347.2:c.567A>G | XP_011540649.1:p.Pro189= | |
| XM_017002651.2:c.567A>G | XP_016858140.1:p.Pro189= | |
| NM_003680.4:c.1197A>G MANE Select | NP_003671.1:p.Pro399= |