Linked Data
ClinVar Variation Id:
183231
ClinVar RCV Id:
RCV000162063
dbSNP Id:
rs199744595
PubMed:
PMID:23388215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90404693C>G , CM000676.2:g.90404693C>G | GRCh38 |
| NC_000014.8:g.90871037C>G , CM000676.1:g.90871037C>G | GRCh37 |
| NC_000014.7:g.89940790C>G | NCBI36 |
| NG_013338.1:g.12711C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.426C>G MANE Select | ENSP00000349467.4:p.Phe142Leu | |
| ENST00000447653.8:c.318C>G | ENSP00000403491.4:p.Phe106Leu | |
| ENST00000659177.1:c.318C>G | ENSP00000499421.1:p.Phe106Leu | |
| ENST00000663135.1:c.318C>G | ENSP00000499498.1:p.Phe106Leu | |
| ENST00000356978.8:c.426C>G | ENSP00000349467.4:p.Phe142Leu | |
| ENST00000447653.7:c.429C>G | ENSP00000403491.3:p.Phe143Leu | |
| ENST00000544280.6:c.318C>G | ENSP00000442853.2:p.Phe106Leu | |
| ENST00000553422.1:c.298C>G | ENSP00000450425.1:n.298C>G | |
| ENST00000553542.5:c.318C>G | ENSP00000450829.1:p.Phe106Leu | |
| ENST00000553630.1:c.*67C>G | ENSP00000451646.1:n.*67C>G | |
| ENST00000553964.5:n.2556C>G | ||
| ENST00000554296.1:n.478C>G | ||
| ENST00000556721.1:n.352C>G | ||
| ENST00000626705.2:c.228C>G | ENSP00000486402.1:p.Phe76Leu | |
| NM_006888.4:c.426C>G | NP_008819.1:p.Phe142Leu | |
| XM_006720258.2:c.429C>G | XP_006720321.1:p.Phe143Leu | |
| NM_001363669.1:c.318C>G | NP_001350598.1:p.Phe106Leu | |
| NM_001363670.1:c.429C>G | NP_001350599.1:p.Phe143Leu | |
| NM_006888.5:c.426C>G | NP_008819.1:p.Phe142Leu | |
| NM_006888.6:c.426C>G MANE Select | NP_008819.1:p.Phe142Leu | |
| NM_001363669.2:c.318C>G | NP_001350598.1:p.Phe106Leu | |
| NM_001363670.2:c.429C>G | NP_001350599.1:p.Phe143Leu |