Linked Data
ClinVar Variation Id:
2080941
ClinVar RCV Id:
RCV003002313
dbSNP Id:
rs540638420
ExAC:
16:4849706 G / A
gnomAD v2:
16-4849706-G-A
gnomAD v3:
16-4799705-G-A
gnomAD v4:
16-4799705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799705G>A , CM000678.2:g.4799705G>A | GRCh38 |
| NC_000016.9:g.4849706G>A , CM000678.1:g.4849706G>A | GRCh37 |
| NC_000016.8:g.4789707G>A | NCBI36 |
| NG_032174.1:g.8246C>T , LRG_455:g.8246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.413C>T MANE Select | ENSP00000322832.6:p.Thr138Met | |
| ENST00000322048.11:c.413C>T | ENSP00000322832.5:p.Thr138Met | |
| ENST00000585653.1:n.545C>T | ||
| ENST00000586153.1:c.158C>T | ENSP00000464699.1:p.Thr53Met | |
| ENST00000586336.5:n.512C>T | ||
| ENST00000586504.5:c.193C>T | ||
| ENST00000587377.5:c.413C>T | ENSP00000468343.1:p.Thr138Met | |
| ENST00000587711.5:c.118-1038C>T | ENSP00000467459.1:n.118-1038C>T | |
| ENST00000587843.5:c.*151C>T | ENSP00000465970.1:n.*151C>T | |
| ENST00000588201.5:c.*270C>T | ENSP00000466529.1:n.*270C>T | |
| ENST00000589543.5:n.370C>T | ||
| ENST00000591292.5:n.1742C>T | ||
| ENST00000591392.5:c.341C>T | ENSP00000467509.1:p.Thr114Met | |
| ENST00000592019.1:c.76+56C>T | ||
| NM_024589.2:c.413C>T , LRG_455t1:c.413C>T | NP_078865.1:p.Thr138Met | |
| NR_046480.1:n.737C>T | ||
| XM_006720947.2:c.413C>T | XP_006721010.1:p.Thr138Met | |
| XM_006720948.2:c.143C>T | XP_006721011.1:p.Thr48Met | |
| XM_006720947.4:c.413C>T | XP_006721010.1:p.Thr138Met | |
| XM_006720948.4:c.143C>T | XP_006721011.1:p.Thr48Met | |
| NM_024589.3:c.413C>T MANE Select | NP_078865.1:p.Thr138Met | |
| NR_046480.2:n.420C>T |