Linked Data
ClinVar Variation Id:
297145
dbSNP Id:
rs150690731
gnomAD v2:
1-33241298-T-C
gnomAD v3:
1-32775697-T-C
gnomAD v4:
1-32775697-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32775697T>C , CM000663.2:g.32775697T>C | GRCh38 |
| NC_000001.10:g.33241298T>C , CM000663.1:g.33241298T>C | GRCh37 |
| NC_000001.9:g.33013885T>C | NCBI36 |
| NG_008408.1:g.47336A>G , LRG_273:g.47336A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.*284A>G | ENSP00000502019.1:n.*284A>G | |
| ENST00000373477.9:c.*284A>G MANE Select | ENSP00000362576.4:n.*284A>G | |
| ENST00000674629.1:c.*1419A>G | ENSP00000502470.1:n.*1419A>G | |
| ENST00000674654.1:c.*1831A>G | ENSP00000501729.1:n.*1831A>G | |
| ENST00000675785.1:c.*284A>G | ENSP00000502019.1:n.*284A>G | |
| ENST00000676297.1:c.*2045A>G | ENSP00000501596.1:n.*2045A>G | |
| ENST00000373477.8:c.*284A>G | ENSP00000362576.4:n.*284A>G | |
| ENST00000469100.5:n.1787A>G | ||
| ENST00000487404.5:n.2181A>G | ||
| ENST00000490826.1:n.1725A>G | ||
| NM_003680.3:c.*284A>G , LRG_273t1:c.*284A>G | NP_003671.1:n.*284A>G | |
| XM_011542347.1:c.*284A>G | XP_011540649.1:n.*284A>G | |
| XM_011542348.1:c.*284A>G | XP_011540650.1:n.*284A>G | |
| XM_011542347.2:c.*284A>G | XP_011540649.1:n.*284A>G | |
| XM_017002651.2:c.*284A>G | XP_016858140.1:n.*284A>G | |
| NM_003680.4:c.*284A>G MANE Select | NP_003671.1:n.*284A>G |