Linked Data
dbSNP Id:
rs755620118
ExAC:
6:30891252 C / G
gnomAD v2:
6-30891252-C-G
gnomAD v4:
6-30923475-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30923475C>G , CM000668.2:g.30923475C>G | GRCh38 |
| NC_000006.11:g.30891252C>G , CM000668.1:g.30891252C>G | GRCh37 |
| NC_000006.10:g.30999231C>G | NCBI36 |
| NG_034224.1:g.14268C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2436C>G | ENSP00000441000.2:p.Phe812Leu | |
| ENST00000672801.1:c.2430C>G | ENSP00000500615.1:p.Phe810Leu | |
| ENST00000676266.1:c.2436C>G MANE Select | ENSP00000502585.1:p.Phe812Leu | |
| ENST00000321897.9:c.2436C>G | ENSP00000316092.5:p.Phe812Leu | |
| ENST00000469358.5:n.2424C>G | ||
| ENST00000473916.1:n.147C>G | ||
| ENST00000476162.5:n.1223C>G | ||
| ENST00000477052.1:n.522C>G | ||
| ENST00000477288.5:n.5049C>G | ||
| ENST00000541562.5:c.2526C>G | ENSP00000441000.1:p.Phe842Leu | |
| ENST00000542001.5:c.2430C>G | ENSP00000438200.2:p.Phe810Leu | |
| ENST00000625423.2:c.2016C>G | ENSP00000485818.1:p.Phe672Leu | |
| NM_001167733.2:c.2016C>G | NP_001161205.1:p.Phe672Leu | |
| NM_001167734.1:c.2526C>G | NP_001161206.1:p.Phe842Leu | |
| NM_020442.5:c.2436C>G | NP_065175.4:p.Phe812Leu | |
| NM_001167733.3:c.2016C>G | NP_001161205.1:p.Phe672Leu | |
| NM_001167734.2:c.2526C>G | NP_001161206.1:p.Phe842Leu | |
| NM_020442.6:c.2436C>G MANE Select | NP_065175.4:p.Phe812Leu |