Linked Data
ClinVar Variation Id:
130160
dbSNP Id:
rs11553876
ExAC:
16:4849705 C / T
gnomAD v2:
16-4849705-C-T
gnomAD v3:
16-4799704-C-T
gnomAD v4:
16-4799704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799704C>T , CM000678.2:g.4799704C>T | GRCh38 |
| NC_000016.9:g.4849705C>T , CM000678.1:g.4849705C>T | GRCh37 |
| NC_000016.8:g.4789706C>T | NCBI36 |
| NG_032174.1:g.8247G>A , LRG_455:g.8247G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.414G>A MANE Select | ENSP00000322832.6:p.Thr138= | |
| ENST00000322048.11:c.414G>A | ENSP00000322832.5:p.Thr138= | |
| ENST00000585653.1:n.546G>A | ||
| ENST00000586153.1:c.159G>A | ENSP00000464699.1:p.Thr53= | |
| ENST00000586336.5:n.513G>A | ||
| ENST00000586504.5:c.194G>A | ||
| ENST00000587377.5:c.414G>A | ENSP00000468343.1:p.Thr138= | |
| ENST00000587711.5:c.118-1037G>A | ENSP00000467459.1:n.118-1037G>A | |
| ENST00000587843.5:c.*152G>A | ENSP00000465970.1:n.*152G>A | |
| ENST00000588201.5:c.*271G>A | ENSP00000466529.1:n.*271G>A | |
| ENST00000589543.5:n.371G>A | ||
| ENST00000591292.5:n.1743G>A | ||
| ENST00000591392.5:c.342G>A | ENSP00000467509.1:p.Thr114= | |
| ENST00000592019.1:c.76+57G>A | ||
| NM_024589.2:c.414G>A , LRG_455t1:c.414G>A | NP_078865.1:p.Thr138= | |
| NR_046480.1:n.738G>A | ||
| XM_006720947.2:c.414G>A | XP_006721010.1:p.Thr138= | |
| XM_006720948.2:c.144G>A | XP_006721011.1:p.Thr48= | |
| XM_006720947.4:c.414G>A | XP_006721010.1:p.Thr138= | |
| XM_006720948.4:c.144G>A | XP_006721011.1:p.Thr48= | |
| NM_024589.3:c.414G>A MANE Select | NP_078865.1:p.Thr138= | |
| NR_046480.2:n.421G>A |