Linked Data
ClinVar Variation Id:
439132
ClinVar RCV Id:
RCV000508469
dbSNP Id:
rs63750720
PubMed:
PMID:19429541
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227011A>T , CM000673.2:g.5227011A>T | GRCh38 |
| NC_000011.9:g.5248241A>T , CM000673.1:g.5248241A>T | GRCh37 |
| NC_000011.8:g.5204817A>T | NCBI36 |
| NG_000007.3:g.70605T>A | |
| NG_059281.1:g.5061T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.11T>A | ENSP00000494175.1:p.Leu4Gln | |
| ENST00000335295.4:c.11T>A MANE Select | ENSP00000333994.3:p.Leu4Gln | |
| ENST00000380315.2:c.11T>A | ENSP00000369671.2:p.Leu4Gln | |
| ENST00000485743.1:n.62T>A | ||
| ENST00000633227.1:c.11T>A | ENSP00000488004.1:p.Leu4Gln | |
| NM_000518.4:c.11T>A | NP_000509.1:p.Leu4Gln | |
| NM_000518.5:c.11T>A MANE Select | NP_000509.1:p.Leu4Gln |