Linked Data
ClinVar Variation Id:
17523
ClinVar RCV Id:
RCV000019075
dbSNP Id:
rs121912814
gnomAD v2:
15-74631102-A-T
gnomAD v4:
15-74338761-A-T
PubMed:
PMID:18182448
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74338761A>T , CM000677.2:g.74338761A>T | GRCh38 |
| NC_000015.9:g.74631102A>T , CM000677.1:g.74631102A>T | GRCh37 |
| NC_000015.8:g.72418155A>T | NCBI36 |
| NG_007973.1:g.33981T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1244T>A MANE Select | ENSP00000268053.6:p.Val415Glu | |
| ENST00000268053.10:c.1244T>A | ENSP00000268053.6:p.Val415Glu | |
| ENST00000358632.8:c.770T>A | ENSP00000351455.4:p.Val257Glu | |
| ENST00000435365.5:c.1165T>A | ENSP00000391081.1:p.Cys389Ser | |
| ENST00000498141.1:n.87T>A | ||
| NM_000781.2:c.1244T>A | NP_000772.2:p.Val415Glu | |
| NM_001099773.1:c.770T>A | NP_001093243.1:p.Val257Glu | |
| NM_000781.3:c.1244T>A MANE Select | NP_000772.2:p.Val415Glu | |
| NM_001099773.2:c.770T>A | NP_001093243.1:p.Val257Glu |