Linked Data
ClinVar Variation Id:
792231
ClinVar RCV Id:
RCV000975322
dbSNP Id:
rs1575206765
gnomAD v4:
2-218814194-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814194C>G , CM000664.2:g.218814194C>G | GRCh38 |
| NC_000002.11:g.219678917C>G , CM000664.1:g.219678917C>G | GRCh37 |
| NC_000002.10:g.219387161C>G | NCBI36 |
| NG_007959.1:g.37446C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1184+7C>G MANE Select | ENSP00000258415.4:n.1184+7C>G | |
| ENST00000258415.8:c.1184+7C>G | ENSP00000258415.4:n.1184+7C>G | |
| ENST00000494263.5:n.1625C>G | ||
| NM_000784.3:c.1184+7C>G | NP_000775.1:n.1184+7C>G | |
| XM_017003488.2:c.764+7C>G | XP_016858977.1:n.764+7C>G | |
| NM_000784.4:c.1184+7C>G MANE Select | NP_000775.1:n.1184+7C>G |