Linked Data
ClinVar Variation Id:
15137
ClinVar RCV Id:
RCV000016300
dbSNP Id:
rs34362537
PubMed:
PMID:5960324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226677A>G , CM000673.2:g.5226677A>G | GRCh38 |
| NC_000011.9:g.5247907A>G , CM000673.1:g.5247907A>G | GRCh37 |
| NC_000011.8:g.5204483A>G | NCBI36 |
| NG_000007.3:g.70939T>C | |
| NG_059281.1:g.5395T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.215T>C | ENSP00000494175.1:p.Phe72Ser | |
| ENST00000335295.4:c.215T>C MANE Select | ENSP00000333994.3:p.Phe72Ser | |
| ENST00000380315.2:c.215T>C | ENSP00000369671.2:p.Phe72Ser | |
| ENST00000475226.1:n.147T>C | ||
| ENST00000485743.1:n.266T>C | ||
| ENST00000633227.1:c.*31T>C | ENSP00000488004.1:n.*31T>C | |
| NM_000518.4:c.215T>C | NP_000509.1:p.Phe72Ser | |
| NM_000518.5:c.215T>C MANE Select | NP_000509.1:p.Phe72Ser |