Linked Data
ClinVar Variation Id:
214457
dbSNP Id:
rs145172999
ExAC:
17:41063063 G / A
gnomAD v2:
17-41063063-G-A
gnomAD v3:
17-42911046-G-A
gnomAD v4:
17-42911046-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911046G>A , CM000679.2:g.42911046G>A | GRCh38 |
| NC_000017.10:g.41063063G>A , CM000679.1:g.41063063G>A | GRCh37 |
| NC_000017.9:g.38316589G>A | NCBI36 |
| NG_011808.1:g.15249G>A , LRG_147:g.15249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.694G>A MANE Select | ENSP00000253801.1:p.Val232Ile | |
| ENST00000253801.6:c.694G>A | ENSP00000253801.1:p.Val232Ile | |
| ENST00000585489.1:c.*86G>A | ENSP00000466202.1:n.*86G>A | |
| ENST00000592383.5:c.*86G>A | ENSP00000465958.1:n.*86G>A | |
| NM_000151.3:c.694G>A | NP_000142.2:p.Val232Ile | |
| NM_001270397.1:c.*86G>A | NP_001257326.1:n.*86G>A | |
| NM_000151.4:c.694G>A MANE Select | NP_000142.2:p.Val232Ile | |
| NM_001270397.2:c.*86G>A | NP_001257326.1:n.*86G>A |