Linked Data
ClinVar Variation Id:
650621
ClinVar RCV Id:
RCV000805803
dbSNP Id:
rs1232072886
gnomAD v2:
16-4847982-G-A
gnomAD v4:
16-4797981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797981G>A , CM000678.2:g.4797981G>A | GRCh38 |
| NC_000016.9:g.4847982G>A , CM000678.1:g.4847982G>A | GRCh37 |
| NC_000016.8:g.4787983G>A | NCBI36 |
| NG_032174.1:g.9970C>T , LRG_455:g.9970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.652C>T MANE Select | ENSP00000322832.6:p.Arg218Cys | |
| ENST00000322048.11:c.652C>T | ENSP00000322832.5:p.Arg218Cys | |
| ENST00000586153.1:c.298C>T | ENSP00000464699.1:p.Arg100Cys | |
| ENST00000586336.5:n.751C>T | ||
| ENST00000586504.5:c.425+90C>T | ||
| ENST00000587377.5:c.665C>T | ENSP00000468343.1:p.Pro222Leu | |
| ENST00000587711.5:c.337C>T | ENSP00000467459.1:p.Arg113Cys | |
| ENST00000587843.5:c.*390C>T | ENSP00000465970.1:n.*390C>T | |
| ENST00000588201.5:c.*643C>T | ENSP00000466529.1:n.*643C>T | |
| ENST00000589543.5:n.609C>T | ||
| ENST00000591292.5:n.1981C>T | ||
| ENST00000591392.5:c.580C>T | ENSP00000467509.1:p.Arg194Cys | |
| ENST00000592019.1:c.77-166C>T | ||
| NM_024589.2:c.652C>T , LRG_455t1:c.652C>T | NP_078865.1:p.Arg218Cys | |
| NR_046480.1:n.976C>T | ||
| XM_006720947.2:c.652C>T | XP_006721010.1:p.Arg218Cys | |
| XM_006720948.2:c.382C>T | XP_006721011.1:p.Arg128Cys | |
| XM_006720947.4:c.652C>T | XP_006721010.1:p.Arg218Cys | |
| XM_006720948.4:c.382C>T | XP_006721011.1:p.Arg128Cys | |
| NM_024589.3:c.652C>T MANE Select | NP_078865.1:p.Arg218Cys | |
| NR_046480.2:n.659C>T |