Linked Data
ClinVar Variation Id:
212732
ClinVar RCV Id:
RCV000192794
dbSNP Id:
rs137853943
gnomAD v4:
3-33114550-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114550C>G , CM000665.2:g.33114550C>G | GRCh38 |
| NC_000003.11:g.33156042C>G , CM000665.1:g.33156042C>G | GRCh37 |
| NC_000003.10:g.33131046C>G | NCBI36 |
| NG_008122.1:g.5593C>G , LRG_4:g.5593C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320954.11:c.471+2C>G MANE Select | ENSP00000323696.5:n.471+2C>G | |
| ENST00000320954.10:c.471+2C>G | ENSP00000323696.5:n.471+2C>G | |
| ENST00000449224.1:c.471+2C>G | ENSP00000409997.1:n.471+2C>G | |
| NM_006371.4:c.471+2C>G , LRG_4t1:c.471+2C>G | NP_006362.1:n.471+2C>G | |
| NM_006371.5:c.471+2C>G MANE Select | NP_006362.1:n.471+2C>G | |
| NM_001393363.1:c.471+2C>G | NP_001380292.1:n.471+2C>G | |
| NM_001393364.1:c.471+2C>G | NP_001380293.1:n.471+2C>G | |
| NM_001393365.1:c.471+2C>G | NP_001380294.1:n.471+2C>G |