Linked Data
ClinVar Variation Id:
12007
ClinVar RCV Id:
RCV000012787
dbSNP Id:
rs104894569
PubMed:
PMID:8733042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909407G>A , CM000679.2:g.42909407G>A | GRCh38 |
| NC_000017.10:g.41061424G>A , CM000679.1:g.41061424G>A | GRCh37 |
| NC_000017.9:g.38314950G>A | NCBI36 |
| NG_011808.1:g.13610G>A , LRG_147:g.13610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.551G>A MANE Select | ENSP00000253801.1:p.Gly184Glu | |
| ENST00000253801.6:c.551G>A | ENSP00000253801.1:p.Gly184Glu | |
| ENST00000585489.1:c.447-1508G>A | ENSP00000466202.1:n.447-1508G>A | |
| ENST00000592383.5:c.474G>A | ENSP00000465958.1:p.Trp158Ter | |
| NM_000151.3:c.551G>A | NP_000142.2:p.Gly184Glu | |
| NM_001270397.1:c.474G>A | NP_001257326.1:p.Trp158Ter | |
| NM_000151.4:c.551G>A MANE Select | NP_000142.2:p.Gly184Glu | |
| NM_001270397.2:c.474G>A | NP_001257326.1:p.Trp158Ter |