Linked Data
ClinVar Variation Id:
471786
dbSNP Id:
rs199535524
ExAC:
19:16591433 C / T
gnomAD v2:
19-16591433-C-T
gnomAD v3:
19-16480622-C-T
gnomAD v4:
19-16480622-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16480622C>T , CM000681.2:g.16480622C>T | GRCh38 |
| NC_000019.9:g.16591433C>T , CM000681.1:g.16591433C>T | GRCh37 |
| NC_000019.8:g.16452433C>T | NCBI36 |
| NG_031959.2:g.152583G>A , LRG_422:g.152583G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269881.8:c.1003G>A MANE Select | ENSP00000269881.3:p.Glu335Lys | |
| ENST00000269881.7:c.1003G>A | ENSP00000269881.2:p.Glu335Lys | |
| ENST00000409035.1:c.*806G>A | ENSP00000386951.2:n.*806G>A | |
| NM_145046.4:c.1003G>A , LRG_422t1:c.1003G>A | NP_659483.2:p.Glu335Lys | |
| NM_145046.5:c.1003G>A MANE Select | NP_659483.2:p.Glu335Lys |