Linked Data
ClinVar Variation Id:
1449452
ClinVar RCV Id:
RCV001997555
dbSNP Id:
rs2125595986
gnomAD v4:
3-33114344-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33114344C>G , CM000665.2:g.33114344C>G | GRCh38 |
| NC_000003.11:g.33155836C>G , CM000665.1:g.33155836C>G | GRCh37 |
| NC_000003.10:g.33130840C>G | NCBI36 |
| NG_008122.1:g.5387C>G , LRG_4:g.5387C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320954.11:c.267C>G MANE Select | ENSP00000323696.5:p.Ser89Arg | |
| ENST00000320954.10:c.267C>G | ENSP00000323696.5:p.Ser89Arg | |
| ENST00000449224.1:c.267C>G | ENSP00000409997.1:p.Ser89Arg | |
| NM_006371.4:c.267C>G , LRG_4t1:c.267C>G | NP_006362.1:p.Ser89Arg | |
| NM_006371.5:c.267C>G MANE Select | NP_006362.1:p.Ser89Arg | |
| NM_001393363.1:c.267C>G | NP_001380292.1:p.Ser89Arg | |
| NM_001393364.1:c.267C>G | NP_001380293.1:p.Ser89Arg | |
| NM_001393365.1:c.267C>G | NP_001380294.1:p.Ser89Arg |