Linked Data
ClinVar Variation Id:
60664
ClinVar RCV Id:
RCV000054477
dbSNP Id:
rs140749796
PubMed:
PMID:23802516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3121122C>G , CM000681.2:g.3121122C>G | GRCh38 |
| NC_000019.9:g.3121120C>G , CM000681.1:g.3121120C>G | GRCh37 |
| NC_000019.8:g.3072120C>G | NCBI36 |
| NG_033852.2:g.31713C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000078429.9:c.1023C>G MANE Select | ENSP00000078429.3:p.Phe341Leu | |
| ENST00000078429.8:c.1023C>G | ENSP00000078429.3:p.Phe341Leu | |
| ENST00000586180.1:n.542C>G | ||
| ENST00000587636.1:c.569C>G | ||
| ENST00000590534.1:n.2344C>G | ||
| NM_002067.4:c.1023C>G | NP_002058.2:p.Phe341Leu | |
| NM_002067.5:c.1023C>G MANE Select | NP_002058.2:p.Phe341Leu |