Linked Data
ClinVar Variation Id:
15268
ClinVar RCV Id:
RCV000016493
dbSNP Id:
rs33964352
PubMed:
PMID:3937827
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225609T>C , CM000673.2:g.5225609T>C | GRCh38 |
| NC_000011.9:g.5246839T>C , CM000673.1:g.5246839T>C | GRCh37 |
| NC_000011.8:g.5203415T>C | NCBI36 |
| NG_000007.3:g.72007A>G | |
| NG_059281.1:g.6463A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.433A>G | ENSP00000494175.1:p.Lys145Glu | |
| ENST00000335295.4:c.433A>G MANE Select | ENSP00000333994.3:p.Lys145Glu | |
| ENST00000633227.1:c.*249A>G | ENSP00000488004.1:n.*249A>G | |
| NM_000518.4:c.433A>G | NP_000509.1:p.Lys145Glu | |
| NM_000518.5:c.433A>G MANE Select | NP_000509.1:p.Lys145Glu |