Linked Data
ClinVar Variation Id:
464187
dbSNP Id:
rs779234204
ExAC:
5:151239431 C / T
gnomAD v2:
5-151239431-C-T
gnomAD v4:
5-151859870-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151859870C>T , CM000667.2:g.151859870C>T | GRCh38 |
| NC_000005.9:g.151239431C>T , CM000667.1:g.151239431C>T | GRCh37 |
| NC_000005.8:g.151219624C>T | NCBI36 |
| NG_011764.1:g.69967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.391G>A MANE Select | ENSP00000274576.5:p.Glu131Lys | |
| ENST00000274576.8:c.391G>A | ENSP00000274576.4:p.Glu131Lys | |
| ENST00000455880.2:c.391G>A | ENSP00000411593.2:p.Glu131Lys | |
| ENST00000462581.6:c.*149G>A | ENSP00000430595.1:n.*149G>A | |
| ENST00000471351.2:n.674G>A | ||
| NM_000171.3:c.391G>A | NP_000162.2:p.Glu131Lys | |
| NM_001146040.1:c.391G>A | NP_001139512.1:p.Glu131Lys | |
| NM_001292000.1:c.142G>A | NP_001278929.1:p.Glu48Lys | |
| XM_005268412.2:c.391G>A | XP_005268469.1:p.Glu131Lys | |
| XR_002956230.1:n.229+1977C>T | ||
| NM_000171.4:c.391G>A MANE Select | NP_000162.2:p.Glu131Lys | |
| NM_001146040.2:c.391G>A | NP_001139512.1:p.Glu131Lys | |
| NM_001292000.2:c.142G>A | NP_001278929.1:p.Glu48Lys |