Linked Data
ClinVar Variation Id:
297136
ClinVar RCV Id:
RCV000318988
dbSNP Id:
rs542816112
gnomAD v2:
1-33240983-T-G
gnomAD v3:
1-32775382-T-G
gnomAD v4:
1-32775382-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32775382T>G , CM000663.2:g.32775382T>G | GRCh38 |
| NC_000001.10:g.33240983T>G , CM000663.1:g.33240983T>G | GRCh37 |
| NC_000001.9:g.33013570T>G | NCBI36 |
| NG_008408.1:g.47651A>C , LRG_273:g.47651A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.*599A>C | ENSP00000502019.1:n.*599A>C | |
| ENST00000373477.9:c.*599A>C MANE Select | ENSP00000362576.4:n.*599A>C | |
| ENST00000674629.1:c.*1734A>C | ENSP00000502470.1:n.*1734A>C | |
| ENST00000674654.1:c.*2146A>C | ENSP00000501729.1:n.*2146A>C | |
| ENST00000675785.1:c.*599A>C | ENSP00000502019.1:n.*599A>C | |
| ENST00000676297.1:c.*2360A>C | ENSP00000501596.1:n.*2360A>C | |
| ENST00000373477.8:c.*599A>C | ENSP00000362576.4:n.*599A>C | |
| ENST00000469100.5:n.2102A>C | ||
| ENST00000490826.1:n.2040A>C | ||
| NM_003680.3:c.*599A>C , LRG_273t1:c.*599A>C | NP_003671.1:n.*599A>C | |
| XM_011542347.1:c.*599A>C | XP_011540649.1:n.*599A>C | |
| XM_011542348.1:c.*599A>C | XP_011540650.1:n.*599A>C | |
| XM_011542347.2:c.*599A>C | XP_011540649.1:n.*599A>C | |
| XM_017002651.2:c.*599A>C | XP_016858140.1:n.*599A>C | |
| NM_003680.4:c.*599A>C MANE Select | NP_003671.1:n.*599A>C |