Linked Data
ClinVar Variation Id:
449988
dbSNP Id:
rs142153571
ExAC:
9:94874782 G / C
gnomAD v2:
9-94874782-G-C
gnomAD v3:
9-92112500-G-C
gnomAD v4:
9-92112500-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92112500G>C , CM000671.2:g.92112500G>C | GRCh38 |
| NC_000009.11:g.94874782G>C , CM000671.1:g.94874782G>C | GRCh37 |
| NC_000009.10:g.93914603G>C | NCBI36 |
| NG_007950.1:g.7909C>G , LRG_272:g.7909C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461132.2:c.120C>G | ENSP00000509096.1:p.Phe40Leu | |
| ENST00000482632.6:n.530C>G | ||
| ENST00000488921.6:c.*136C>G | ENSP00000510034.1:n.*136C>G | |
| ENST00000686600.1:c.120C>G | ENSP00000509268.1:p.Phe40Leu | |
| ENST00000686799.1:n.217C>G | ||
| ENST00000687427.1:c.120C>G | ENSP00000509426.1:p.Phe40Leu | |
| ENST00000687817.1:c.120C>G | ENSP00000508926.1:p.Phe40Leu | |
| ENST00000687972.1:c.120C>G | ENSP00000509208.1:p.Phe40Leu | |
| ENST00000689401.1:c.*136C>G | ENSP00000510251.1:n.*136C>G | |
| ENST00000689423.1:c.*136C>G | ENSP00000508519.1:n.*136C>G | |
| ENST00000690139.1:c.120C>G | ENSP00000510483.1:p.Phe40Leu | |
| ENST00000692363.1:c.120C>G | ENSP00000509481.1:p.Phe40Leu | |
| ENST00000692458.1:n.143C>G | ||
| ENST00000693147.1:c.*136C>G | ENSP00000510358.1:n.*136C>G | |
| ENST00000262554.7:c.120C>G MANE Select | ENSP00000262554.2:p.Phe40Leu | |
| ENST00000644140.1:c.120C>G | ENSP00000493933.1:p.Phe40Leu | |
| ENST00000646534.1:c.120C>G | ENSP00000495388.1:p.Phe40Leu | |
| ENST00000262554.6:c.120C>G | ENSP00000262554.2:p.Phe40Leu | |
| ENST00000337841.4:c.120C>G | ENSP00000337635.4:p.Phe40Leu | |
| ENST00000461132.1:n.88C>G | ||
| ENST00000482632.5:n.134C>G | ||
| ENST00000488921.5:n.277C>G | ||
| NM_001281303.1:c.120C>G | NP_001268232.1:p.Phe40Leu | |
| NM_006415.3:c.120C>G | NP_006406.1:p.Phe40Leu | |
| NM_178324.2:c.120C>G | NP_847894.1:p.Phe40Leu | |
| XM_011518138.1:c.120C>G | XP_011516440.1:p.Phe40Leu | |
| XM_011518139.1:c.-346C>G | XP_011516441.1:n.-346C>G | |
| XM_011518138.2:c.120C>G | XP_011516440.1:p.Phe40Leu | |
| XM_011518139.3:c.-346C>G | XP_011516441.1:n.-346C>G | |
| XM_017014200.2:c.-380C>G | XP_016869689.1:n.-380C>G | |
| XM_017014201.2:c.-380C>G | XP_016869690.1:n.-380C>G | |
| XR_002956744.1:n.137C>G | ||
| NM_006415.4:c.120C>G MANE Select | NP_006406.1:p.Phe40Leu | |
| NM_001281303.2:c.120C>G | NP_001268232.1:p.Phe40Leu | |
| NM_001368272.1:c.-380C>G | NP_001355201.1:n.-380C>G | |
| NM_001368273.1:c.-346C>G | NP_001355202.1:n.-346C>G | |
| NM_178324.3:c.120C>G | NP_847894.1:p.Phe40Leu |