Linked Data
ClinVar Variation Id:
12004
dbSNP Id:
rs104894565
ExAC:
17:41053006 A / T
gnomAD v2:
17-41053006-A-T
gnomAD v3:
17-42900989-A-T
gnomAD v4:
17-42900989-A-T
PubMed:
PMID:8733042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900989A>T , CM000679.2:g.42900989A>T | GRCh38 |
| NC_000017.10:g.41053006A>T , CM000679.1:g.41053006A>T | GRCh37 |
| NC_000017.9:g.38306532A>T | NCBI36 |
| NG_011808.1:g.5192A>T , LRG_147:g.5192A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.113A>T MANE Select | ENSP00000253801.1:p.Asp38Val | |
| ENST00000253801.6:c.113A>T | ENSP00000253801.1:p.Asp38Val | |
| ENST00000585489.1:c.113A>T | ENSP00000466202.1:p.Asp38Val | |
| ENST00000588481.1:n.178A>T | ||
| ENST00000592383.5:c.113A>T | ENSP00000465958.1:p.Asp38Val | |
| NM_000151.3:c.113A>T | NP_000142.2:p.Asp38Val | |
| NM_001270397.1:c.113A>T | NP_001257326.1:p.Asp38Val | |
| NM_000151.4:c.113A>T MANE Select | NP_000142.2:p.Asp38Val | |
| NM_001270397.2:c.113A>T | NP_001257326.1:p.Asp38Val |