Linked Data
ClinVar Variation Id:
1473233
ClinVar RCV Id:
RCV001977458
dbSNP Id:
rs2141906428
gnomAD v4:
16-4798136-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798136T>C , CM000678.2:g.4798136T>C | GRCh38 |
| NC_000016.9:g.4848137T>C , CM000678.1:g.4848137T>C | GRCh37 |
| NC_000016.8:g.4788138T>C | NCBI36 |
| NG_032174.1:g.9815A>G , LRG_455:g.9815A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.580A>G MANE Select | ENSP00000322832.6:p.Ile194Val | |
| ENST00000322048.11:c.580A>G | ENSP00000322832.5:p.Ile194Val | |
| ENST00000586153.1:c.226A>G | ENSP00000464699.1:p.Ile76Val | |
| ENST00000586336.5:n.679A>G | ||
| ENST00000586504.5:c.360A>G | ||
| ENST00000587377.5:c.593A>G | ENSP00000468343.1:p.His198Arg | |
| ENST00000587711.5:c.265A>G | ENSP00000467459.1:p.Ile89Val | |
| ENST00000587843.5:c.*318A>G | ENSP00000465970.1:n.*318A>G | |
| ENST00000588201.5:c.*571A>G | ENSP00000466529.1:n.*571A>G | |
| ENST00000589543.5:n.537A>G | ||
| ENST00000591292.5:n.1909A>G | ||
| ENST00000591392.5:c.508A>G | ENSP00000467509.1:p.Ile170Val | |
| ENST00000592019.1:c.77-321A>G | ||
| NM_024589.2:c.580A>G , LRG_455t1:c.580A>G | NP_078865.1:p.Ile194Val | |
| NR_046480.1:n.904A>G | ||
| XM_006720947.2:c.580A>G | XP_006721010.1:p.Ile194Val | |
| XM_006720948.2:c.310A>G | XP_006721011.1:p.Ile104Val | |
| XM_006720947.4:c.580A>G | XP_006721010.1:p.Ile194Val | |
| XM_006720948.4:c.310A>G | XP_006721011.1:p.Ile104Val | |
| NM_024589.3:c.580A>G MANE Select | NP_078865.1:p.Ile194Val | |
| NR_046480.2:n.587A>G |