Linked Data
ClinVar Variation Id:
2163159
ClinVar RCV Id:
RCV003091641
dbSNP Id:
rs537904760
ExAC:
11:299469 C / T
gnomAD v2:
11-299469-C-T
gnomAD v3:
11-299469-C-T
gnomAD v4:
11-299469-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299469C>T , CM000673.2:g.299469C>T | GRCh38 |
| NC_000011.9:g.299469C>T , CM000673.1:g.299469C>T | GRCh37 |
| NC_000011.8:g.289469C>T | NCBI36 |
| NG_032892.1:g.5058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.22G>A MANE Select | ENSP00000372059.2:p.Glu8Lys | |
| NM_001025295.2:c.22G>A | NP_001020466.1:p.Glu8Lys | |
| NM_001025295.3:c.22G>A MANE Select | NP_001020466.1:p.Glu8Lys |