Linked Data
ClinVar Variation Id:
319402
dbSNP Id:
rs143000899
ExAC:
16:4848150 C / T
gnomAD v2:
16-4848150-C-T
gnomAD v3:
16-4798149-C-T
gnomAD v4:
16-4798149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798149C>T , CM000678.2:g.4798149C>T | GRCh38 |
| NC_000016.9:g.4848150C>T , CM000678.1:g.4848150C>T | GRCh37 |
| NC_000016.8:g.4788151C>T | NCBI36 |
| NG_032174.1:g.9802G>A , LRG_455:g.9802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.567G>A MANE Select | ENSP00000322832.6:p.Leu189= | |
| ENST00000322048.11:c.567G>A | ENSP00000322832.5:p.Leu189= | |
| ENST00000586153.1:c.213G>A | ENSP00000464699.1:p.Leu71= | |
| ENST00000586336.5:n.666G>A | ||
| ENST00000586504.5:c.347G>A | ||
| ENST00000587377.5:c.580G>A | ENSP00000468343.1:p.Gly194Ser | |
| ENST00000587711.5:c.252G>A | ENSP00000467459.1:p.Leu84= | |
| ENST00000587843.5:c.*305G>A | ENSP00000465970.1:n.*305G>A | |
| ENST00000588201.5:c.*558G>A | ENSP00000466529.1:n.*558G>A | |
| ENST00000589543.5:n.524G>A | ||
| ENST00000591292.5:n.1896G>A | ||
| ENST00000591392.5:c.495G>A | ENSP00000467509.1:p.Leu165= | |
| ENST00000592019.1:c.77-334G>A | ||
| NM_024589.2:c.567G>A , LRG_455t1:c.567G>A | NP_078865.1:p.Leu189= | |
| NR_046480.1:n.891G>A | ||
| XM_006720947.2:c.567G>A | XP_006721010.1:p.Leu189= | |
| XM_006720948.2:c.297G>A | XP_006721011.1:p.Leu99= | |
| XM_006720947.4:c.567G>A | XP_006721010.1:p.Leu189= | |
| XM_006720948.4:c.297G>A | XP_006721011.1:p.Leu99= | |
| NM_024589.3:c.567G>A MANE Select | NP_078865.1:p.Leu189= | |
| NR_046480.2:n.574G>A |