Linked Data
ClinVar Variation Id:
12005
ClinVar RCV Id:
RCV000012785
dbSNP Id:
rs104894567
ExAC:
17:41056045 G / A
gnomAD v2:
17-41056045-G-A
gnomAD v3:
17-42904028-G-A
gnomAD v4:
17-42904028-G-A
PubMed:
PMID:8733042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42904028G>A , CM000679.2:g.42904028G>A | GRCh38 |
| NC_000017.10:g.41056045G>A , CM000679.1:g.41056045G>A | GRCh37 |
| NC_000017.9:g.38309571G>A | NCBI36 |
| NG_011808.1:g.8231G>A , LRG_147:g.8231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.328G>A MANE Select | ENSP00000253801.1:p.Glu110Lys | |
| ENST00000253801.6:c.328G>A | ENSP00000253801.1:p.Glu110Lys | |
| ENST00000585489.1:c.328G>A | ENSP00000466202.1:p.Glu110Lys | |
| ENST00000588481.1:n.393G>A | ||
| ENST00000592383.5:c.328G>A | ENSP00000465958.1:p.Glu110Lys | |
| NM_000151.3:c.328G>A | NP_000142.2:p.Glu110Lys | |
| NM_001270397.1:c.328G>A | NP_001257326.1:p.Glu110Lys | |
| NM_000151.4:c.328G>A MANE Select | NP_000142.2:p.Glu110Lys | |
| NM_001270397.2:c.328G>A | NP_001257326.1:p.Glu110Lys |