Linked Data
ClinVar Variation Id:
376712
ClinVar RCV Id:
RCV000432633
dbSNP Id:
rs281864720
PubMed:
PMID:18990089
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29213994A>G , CM000664.2:g.29213994A>G | GRCh38 |
| NC_000002.11:g.29436860A>G , CM000664.1:g.29436860A>G | GRCh37 |
| NC_000002.10:g.29290364A>G | NCBI36 |
| NG_009445.1:g.712573T>C , LRG_488:g.712573T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3733T>C MANE Select | ENSP00000373700.3:p.Phe1245Leu | |
| ENST00000431873.6:c.960T>C | ||
| ENST00000638605.1:n.610T>C | ||
| ENST00000642122.1:c.529T>C | ENSP00000493203.1:p.Phe177Leu | |
| ENST00000389048.7:c.3733T>C | ENSP00000373700.3:p.Phe1245Leu | |
| ENST00000431873.5:c.613T>C | ENSP00000414027.2:p.Phe205Leu | |
| ENST00000618119.4:c.2602T>C | ENSP00000482733.1:p.Phe868Leu | |
| NM_004304.4:c.3733T>C | NP_004295.2:p.Phe1245Leu | |
| NM_001353765.1:c.529T>C | NP_001340694.1:p.Phe177Leu | |
| XM_024452778.1:c.886T>C | XP_024308546.1:p.Phe296Leu | |
| XM_024452779.1:c.529T>C | XP_024308547.1:p.Phe177Leu | |
| NM_004304.5:c.3733T>C MANE Select | NP_004295.2:p.Phe1245Leu | |
| NM_001353765.2:c.529T>C | NP_001340694.1:p.Phe177Leu |