Linked Data
ClinVar Variation Id:
1408883
ClinVar RCV Id:
RCV001909613
dbSNP Id:
rs146815588
ExAC:
16:4849701 C / T
gnomAD v2:
16-4849701-C-T
gnomAD v3:
16-4799700-C-T
gnomAD v4:
16-4799700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799700C>T , CM000678.2:g.4799700C>T | GRCh38 |
| NC_000016.9:g.4849701C>T , CM000678.1:g.4849701C>T | GRCh37 |
| NC_000016.8:g.4789702C>T | NCBI36 |
| NG_032174.1:g.8251G>A , LRG_455:g.8251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.418G>A MANE Select | ENSP00000322832.6:p.Ala140Thr | |
| ENST00000322048.11:c.418G>A | ENSP00000322832.5:p.Ala140Thr | |
| ENST00000585653.1:n.550G>A | ||
| ENST00000586153.1:c.163G>A | ENSP00000464699.1:p.Ala55Thr | |
| ENST00000586336.5:n.517G>A | ||
| ENST00000586504.5:c.198G>A | ||
| ENST00000587377.5:c.418G>A | ENSP00000468343.1:p.Ala140Thr | |
| ENST00000587711.5:c.118-1033G>A | ENSP00000467459.1:n.118-1033G>A | |
| ENST00000587843.5:c.*156G>A | ENSP00000465970.1:n.*156G>A | |
| ENST00000588201.5:c.*275G>A | ENSP00000466529.1:n.*275G>A | |
| ENST00000589543.5:n.375G>A | ||
| ENST00000591292.5:n.1747G>A | ||
| ENST00000591392.5:c.346G>A | ENSP00000467509.1:p.Ala116Thr | |
| ENST00000592019.1:c.76+61G>A | ||
| NM_024589.2:c.418G>A , LRG_455t1:c.418G>A | NP_078865.1:p.Ala140Thr | |
| NR_046480.1:n.742G>A | ||
| XM_006720947.2:c.418G>A | XP_006721010.1:p.Ala140Thr | |
| XM_006720948.2:c.148G>A | XP_006721011.1:p.Ala50Thr | |
| XM_006720947.4:c.418G>A | XP_006721010.1:p.Ala140Thr | |
| XM_006720948.4:c.148G>A | XP_006721011.1:p.Ala50Thr | |
| NM_024589.3:c.418G>A MANE Select | NP_078865.1:p.Ala140Thr | |
| NR_046480.2:n.425G>A |