Linked Data
ClinVar Variation Id:
530794
ClinVar RCV Id:
RCV000636831
dbSNP Id:
rs757872277
gnomAD v4:
16-4797972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797972C>T , CM000678.2:g.4797972C>T | GRCh38 |
| NC_000016.9:g.4847973C>T , CM000678.1:g.4847973C>T | GRCh37 |
| NC_000016.8:g.4787974C>T | NCBI36 |
| NG_032174.1:g.9979G>A , LRG_455:g.9979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.661G>A MANE Select | ENSP00000322832.6:p.Gly221Arg | |
| ENST00000322048.11:c.661G>A | ENSP00000322832.5:p.Gly221Arg | |
| ENST00000586153.1:c.307G>A | ENSP00000464699.1:p.Gly103Arg | |
| ENST00000586336.5:n.760G>A | ||
| ENST00000586504.5:c.425+99G>A | ||
| ENST00000587377.5:c.674G>A | ENSP00000468343.1:p.Trp225Ter | |
| ENST00000587711.5:c.346G>A | ENSP00000467459.1:p.Gly116Arg | |
| ENST00000587843.5:c.*399G>A | ENSP00000465970.1:n.*399G>A | |
| ENST00000588201.5:c.*652G>A | ENSP00000466529.1:n.*652G>A | |
| ENST00000589543.5:n.618G>A | ||
| ENST00000591292.5:n.1990G>A | ||
| ENST00000591392.5:c.589G>A | ENSP00000467509.1:p.Gly197Arg | |
| ENST00000592019.1:c.77-157G>A | ||
| NM_024589.2:c.661G>A , LRG_455t1:c.661G>A | NP_078865.1:p.Gly221Arg | |
| NR_046480.1:n.985G>A | ||
| XM_006720947.2:c.661G>A | XP_006721010.1:p.Gly221Arg | |
| XM_006720948.2:c.391G>A | XP_006721011.1:p.Gly131Arg | |
| XM_006720947.4:c.661G>A | XP_006721010.1:p.Gly221Arg | |
| XM_006720948.4:c.391G>A | XP_006721011.1:p.Gly131Arg | |
| NM_024589.3:c.661G>A MANE Select | NP_078865.1:p.Gly221Arg | |
| NR_046480.2:n.668G>A |