Linked Data
ClinVar Variation Id:
258643
dbSNP Id:
rs6744170
ExAC:
2:47602353 A / G
gnomAD v2:
2-47602353-A-G
gnomAD v3:
2-47375214-A-G
gnomAD v4:
2-47375214-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47375214A>G , CM000664.2:g.47375214A>G | GRCh38 |
| NC_000002.11:g.47602353A>G , CM000664.1:g.47602353A>G | GRCh37 |
| NC_000002.10:g.47455857A>G | NCBI36 |
| NG_012352.2:g.35052A>G , LRG_215:g.35052A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.426-20A>G MANE Select | ENSP00000263735.4:n.426-20A>G | |
| ENST00000263735.8:c.426-20A>G | ENSP00000263735.4:n.426-20A>G | |
| ENST00000405271.5:c.510-20A>G | ENSP00000385476.1:n.510-20A>G | |
| ENST00000456133.5:c.510-20A>G | ENSP00000410675.1:n.510-20A>G | |
| ENST00000474691.1:n.694-20A>G | ||
| ENST00000490733.1:n.275-20A>G | ||
| NM_002354.2:c.426-20A>G , LRG_215t1:c.426-20A>G | NP_002345.2:n.426-20A>G | |
| NM_002354.3:c.426-20A>G MANE Select | NP_002345.2:n.426-20A>G |