Linked Data
ClinVar Variation Id:
2198916
ClinVar RCV Id:
RCV002633978
dbSNP Id:
rs755063056
ExAC:
17:42964016 C / T
gnomAD v2:
17-42964016-C-T
gnomAD v3:
17-44886648-C-T
gnomAD v4:
17-44886648-C-T
COSMIC:
COSM4939366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44886648C>T , CM000679.2:g.44886648C>T | GRCh38 |
| NC_000017.10:g.42964016C>T , CM000679.1:g.42964016C>T | GRCh37 |
| NC_000017.9:g.40319542C>T | NCBI36 |
| NG_032674.1:g.17978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.208G>A MANE Select | ENSP00000392094.1:p.Glu70Lys | |
| ENST00000402521.7:c.103G>A | ENSP00000385873.2:p.Glu35Lys | |
| ENST00000426333.6:c.208G>A | ENSP00000392094.1:p.Glu70Lys | |
| ENST00000588374.1:c.82-1314G>A | ENSP00000467639.1:n.82-1314G>A | |
| ENST00000589825.5:n.289G>A | ||
| ENST00000591382.5:c.208G>A | ENSP00000467805.1:p.Glu70Lys | |
| ENST00000592408.5:n.419G>A | ||
| ENST00000592576.5:c.208G>A | ENSP00000465058.1:p.Glu70Lys | |
| ENST00000592701.2:c.208G>A | ENSP00000464908.1:p.Glu70Lys | |
| ENST00000593072.5:c.208G>A | ENSP00000464882.1:p.Glu70Lys | |
| NM_001142605.1:c.103G>A | NP_001136077.1:p.Glu35Lys | |
| NM_001258353.1:c.208G>A | NP_001245282.1:p.Glu70Lys | |
| NM_001258354.1:c.208G>A | NP_001245283.1:p.Glu70Lys | |
| NM_004247.3:c.208G>A | NP_004238.3:p.Glu70Lys | |
| XR_934602.1:n.293G>A | ||
| XR_934602.3:n.289G>A | ||
| NM_004247.4:c.208G>A MANE Select | NP_004238.3:p.Glu70Lys | |
| NM_001142605.2:c.103G>A | NP_001136077.1:p.Glu35Lys | |
| NM_001258353.2:c.208G>A | NP_001245282.1:p.Glu70Lys | |
| NM_001258354.2:c.208G>A | NP_001245283.1:p.Glu70Lys |