Linked Data
ClinVar Variation Id:
15608
ClinVar RCV Id:
RCV000016875
dbSNP Id:
rs33921589
gnomAD v4:
11-5226582-A-C
PubMed:
PMID:14649314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226582A>C , CM000673.2:g.5226582A>C | GRCh38 |
| NC_000011.9:g.5247812A>C , CM000673.1:g.5247812A>C | GRCh37 |
| NC_000011.8:g.5204388A>C | NCBI36 |
| NG_000007.3:g.71034T>G | |
| NG_059281.1:g.5490T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.310T>G | ENSP00000494175.1:p.Phe104Val | |
| ENST00000335295.4:c.310T>G MANE Select | ENSP00000333994.3:p.Phe104Val | |
| ENST00000475226.1:n.242T>G | ||
| ENST00000485743.1:n.361T>G | ||
| ENST00000633227.1:c.*126T>G | ENSP00000488004.1:n.*126T>G | |
| NM_000518.4:c.310T>G | NP_000509.1:p.Phe104Val | |
| NM_000518.5:c.310T>G MANE Select | NP_000509.1:p.Phe104Val |