Linked Data
ClinVar Variation Id:
1047668
ClinVar RCV Id:
RCV001352410
dbSNP Id:
rs756917973
ExAC:
16:4847967 C / T
gnomAD v2:
16-4847967-C-T
gnomAD v3:
16-4797966-C-T
gnomAD v4:
16-4797966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797966C>T , CM000678.2:g.4797966C>T | GRCh38 |
| NC_000016.9:g.4847967C>T , CM000678.1:g.4847967C>T | GRCh37 |
| NC_000016.8:g.4787968C>T | NCBI36 |
| NG_032174.1:g.9985G>A , LRG_455:g.9985G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.667G>A MANE Select | ENSP00000322832.6:p.Ala223Thr | |
| ENST00000322048.11:c.667G>A | ENSP00000322832.5:p.Ala223Thr | |
| ENST00000586153.1:c.313G>A | ENSP00000464699.1:p.Ala105Thr | |
| ENST00000586336.5:n.766G>A | ||
| ENST00000586504.5:c.425+105G>A | ||
| ENST00000587377.5:c.680G>A | ENSP00000468343.1:p.Arg227His | |
| ENST00000587711.5:c.352G>A | ENSP00000467459.1:p.Ala118Thr | |
| ENST00000587843.5:c.*405G>A | ENSP00000465970.1:n.*405G>A | |
| ENST00000588201.5:c.*658G>A | ENSP00000466529.1:n.*658G>A | |
| ENST00000589543.5:n.624G>A | ||
| ENST00000591292.5:n.1996G>A | ||
| ENST00000591392.5:c.595G>A | ENSP00000467509.1:p.Ala199Thr | |
| ENST00000592019.1:c.77-151G>A | ||
| NM_024589.2:c.667G>A , LRG_455t1:c.667G>A | NP_078865.1:p.Ala223Thr | |
| NR_046480.1:n.991G>A | ||
| XM_006720947.2:c.667G>A | XP_006721010.1:p.Ala223Thr | |
| XM_006720948.2:c.397G>A | XP_006721011.1:p.Ala133Thr | |
| XM_006720947.4:c.667G>A | XP_006721010.1:p.Ala223Thr | |
| XM_006720948.4:c.397G>A | XP_006721011.1:p.Ala133Thr | |
| NM_024589.3:c.667G>A MANE Select | NP_078865.1:p.Ala223Thr | |
| NR_046480.2:n.674G>A |