Linked Data
ClinVar Variation Id:
204376
ClinVar RCV Id:
RCV000190442
dbSNP Id:
rs796065351
PubMed:
PMID:26299364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931691T>C , CM000677.2:g.40931691T>C | GRCh38 |
| NC_000015.9:g.41223889T>C , CM000677.1:g.41223889T>C | GRCh37 |
| NC_000015.8:g.39011181T>C | NCBI36 |
| NG_046974.1:g.7359T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249749.7:c.583T>C MANE Select | ENSP00000249749.5:p.Phe195Leu | |
| ENST00000249749.6:c.583T>C | ENSP00000249749.5:p.Phe195Leu | |
| ENST00000559440.1:n.812T>C | ||
| NM_019074.3:c.583T>C | NP_061947.1:p.Phe195Leu | |
| NM_019074.4:c.583T>C MANE Select | NP_061947.1:p.Phe195Leu |