Linked Data
ClinVar Variation Id:
167156
dbSNP Id:
rs201388114
ExAC:
5:89971244 C / G
gnomAD v2:
5-89971244-C-G
gnomAD v3:
5-90675427-C-G
gnomAD v4:
5-90675427-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90675427C>G , CM000667.2:g.90675427C>G | GRCh38 |
| NC_000005.9:g.89971244C>G , CM000667.1:g.89971244C>G | GRCh37 |
| NC_000005.8:g.90007000C>G | NCBI36 |
| NG_007083.1:g.121628C>G | |
| NG_007083.2:g.151084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.5295C>G MANE Select | ENSP00000384582.2:p.Phe1765Leu | |
| ENST00000639431.1:c.117C>G | ENSP00000491057.1:p.Phe39Leu | |
| ENST00000639473.1:n.754C>G | ||
| ENST00000640403.1:c.2586C>G | ENSP00000492531.1:p.Phe862Leu | |
| ENST00000640779.1:c.110C>G | ||
| ENST00000405460.6:c.5295C>G | ENSP00000384582.2:p.Phe1765Leu | |
| ENST00000450321.2:n.630C>G | ||
| NM_032119.3:c.5295C>G | NP_115495.3:p.Phe1765Leu | |
| NR_003149.1:n.5391C>G | ||
| XM_011543675.1:c.5295C>G | XP_011541977.1:p.Phe1765Leu | |
| XM_011543676.1:c.5295C>G | XP_011541978.1:p.Phe1765Leu | |
| XM_011543677.1:c.2598C>G | XP_011541979.1:p.Phe866Leu | |
| XM_011543678.1:c.5295C>G | XP_011541980.1:p.Phe1765Leu | |
| XM_011543679.1:c.5295C>G | XP_011541981.1:p.Phe1765Leu | |
| NM_032119.4:c.5295C>G MANE Select | NP_115495.3:p.Phe1765Leu | |
| XM_017009963.2:c.5295C>G | XP_016865452.1:p.Phe1765Leu | |
| XM_017009964.2:c.5295C>G | XP_016865453.1:p.Phe1765Leu | |
| XM_017009965.1:c.5292C>G | XP_016865454.1:p.Phe1764Leu | |
| XM_017009966.2:c.5295C>G | XP_016865455.1:p.Phe1765Leu | |
| XM_017009967.1:c.5199C>G | XP_016865456.1:p.Phe1733Leu | |
| XM_017009968.2:c.5295C>G | XP_016865457.1:p.Phe1765Leu | |
| XM_017009969.2:c.5295C>G | XP_016865458.1:p.Phe1765Leu | |
| XM_017009970.2:c.5295C>G | XP_016865459.1:p.Phe1765Leu | |
| XM_017009971.2:c.5295C>G | XP_016865460.1:p.Phe1765Leu | |
| XM_017009973.1:c.-1502C>G | XP_016865462.1:n.-1502C>G | |
| XM_017009974.2:c.5295C>G | XP_016865463.1:p.Phe1765Leu | |
| NR_003149.2:n.5394C>G |