Linked Data
ClinVar Variation Id:
504707
dbSNP Id:
rs373669861
ExAC:
4:6296847 C / G
gnomAD v2:
4-6296847-C-G
gnomAD v3:
4-6295120-C-G
gnomAD v4:
4-6295120-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6295120C>G , CM000666.2:g.6295120C>G | GRCh38 |
| NC_000004.11:g.6296847C>G , CM000666.1:g.6296847C>G | GRCh37 |
| NC_000004.10:g.6347748C>G | NCBI36 |
| NG_011700.1:g.30271C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.828C>G | ENSP00000507852.1:p.Phe276Leu | |
| ENST00000683395.1:c.769C>G | ||
| ENST00000684087.1:c.792C>G | ENSP00000506978.1:p.Phe264Leu | |
| ENST00000506362.2:c.543C>G | ENSP00000424103.2:p.Phe181Leu | |
| ENST00000673642.1:c.591C>G | ENSP00000501242.1:p.Phe197Leu | |
| ENST00000673991.1:c.828C>G | ENSP00000501033.1:p.Phe276Leu | |
| ENST00000226760.5:c.792C>G MANE Select | ENSP00000226760.1:p.Phe264Leu | |
| ENST00000503569.5:c.792C>G | ENSP00000423337.1:p.Phe264Leu | |
| ENST00000506362.1:c.425C>G | ||
| ENST00000507765.1:n.977C>G | ||
| ENST00000513395.1:n.350C>G | ||
| NM_001145853.1:c.792C>G | NP_001139325.1:p.Phe264Leu | |
| NM_006005.3:c.792C>G MANE Select | NP_005996.2:p.Phe264Leu | |
| XM_017008586.1:c.801C>G | XP_016864075.1:p.Phe267Leu |