Linked Data
ClinVar Variation Id:
222030
ClinVar RCV Id:
RCV000207486
dbSNP Id:
rs869025335
gnomAD v4:
1-204406262-G-A
COSMIC:
COSM5583962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204406262G>A , CM000663.2:g.204406262G>A | GRCh38 |
| NC_000001.10:g.204375390G>A , CM000663.1:g.204375390G>A | GRCh37 |
| NC_000001.9:g.202642013G>A | NCBI36 |
| NG_046737.1:g.10556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689921.1:c.*119C>T | ENSP00000510434.1:n.*119C>T | |
| ENST00000690849.1:c.*119C>T | ENSP00000509193.1:n.*119C>T | |
| ENST00000693720.1:c.1920+3230C>T | ENSP00000508814.1:n.1920+3230C>T | |
| ENST00000367188.5:c.1972C>T MANE Select | ENSP00000356156.4:p.Arg658Cys | |
| ENST00000367188.4:c.1972C>T | ENSP00000356156.4:p.Arg658Cys | |
| NM_032833.4:c.1972C>T | NP_116222.4:p.Arg658Cys | |
| XM_005245551.3:c.1920+3230C>T | XP_005245608.2:n.1920+3230C>T | |
| XM_005245551.5:c.1920+3230C>T | XP_005245608.2:n.1920+3230C>T | |
| NM_032833.5:c.1972C>T MANE Select | NP_116222.4:p.Arg658Cys |