Linked Data
ClinVar Variation Id:
15613
ClinVar RCV Id:
RCV000016880
dbSNP Id:
rs33961459
PubMed:
PMID:15470216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226687G>A , CM000673.2:g.5226687G>A | GRCh38 |
| NC_000011.9:g.5247917G>A , CM000673.1:g.5247917G>A | GRCh37 |
| NC_000011.8:g.5204493G>A | NCBI36 |
| NG_000007.3:g.70929C>T | |
| NG_059281.1:g.5385C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.205C>T | ENSP00000494175.1:p.Leu69Phe | |
| ENST00000335295.4:c.205C>T MANE Select | ENSP00000333994.3:p.Leu69Phe | |
| ENST00000380315.2:c.205C>T | ENSP00000369671.2:p.Leu69Phe | |
| ENST00000475226.1:n.137C>T | ||
| ENST00000485743.1:n.256C>T | ||
| ENST00000633227.1:c.*21C>T | ENSP00000488004.1:n.*21C>T | |
| NM_000518.4:c.205C>T | NP_000509.1:p.Leu69Phe | |
| NM_000518.5:c.205C>T MANE Select | NP_000509.1:p.Leu69Phe |