Linked Data
ClinVar Variation Id:
21277
dbSNP Id:
rs80338858
ExAC:
11:71148915 G / C
gnomAD v2:
11-71148915-G-C
gnomAD v3:
11-71437869-G-C
gnomAD v4:
11-71437869-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437869G>C , CM000673.2:g.71437869G>C | GRCh38 |
| NC_000011.9:g.71148915G>C , CM000673.1:g.71148915G>C | GRCh37 |
| NC_000011.8:g.70826563G>C | NCBI36 |
| NG_012655.2:g.15563C>G , LRG_340:g.15563C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.906C>G | ENSP00000435707.3:p.Phe302Leu | |
| ENST00000526780.6:c.906C>G | ENSP00000435668.2:p.Phe302Leu | |
| ENST00000527316.6:c.732C>G | ENSP00000435047.2:p.Phe244Leu | |
| ENST00000682708.1:c.957C>G | ENSP00000506866.1:p.Phe319Leu | |
| ENST00000682880.1:c.906C>G | ENSP00000507520.1:p.Phe302Leu | |
| ENST00000683287.1:c.942C>G | ENSP00000507607.1:p.Phe314Leu | |
| ENST00000683714.1:c.906C>G | ENSP00000508207.1:p.Phe302Leu | |
| ENST00000684396.1:n.946C>G | ||
| ENST00000685320.1:c.321C>G | ENSP00000509319.1:p.Phe107Leu | |
| ENST00000690257.1:c.810C>G | ENSP00000510750.1:p.Phe270Leu | |
| ENST00000355527.8:c.906C>G MANE Select | ENSP00000347717.4:p.Phe302Leu | |
| ENST00000355527.7:c.906C>G | ENSP00000347717.3:p.Phe302Leu | |
| ENST00000407721.6:c.906C>G | ENSP00000384739.2:p.Phe302Leu | |
| ENST00000525137.1:c.273C>G | ENSP00000435956.1:p.Phe91Leu | |
| ENST00000533800.5:c.156C>G | ENSP00000435011.1:p.Phe52Leu | |
| ENST00000534795.5:c.262C>G | ||
| NM_001163817.1:c.906C>G | NP_001157289.1:p.Phe302Leu | |
| NM_001360.2:c.906C>G , LRG_340t1:c.906C>G | NP_001351.2:p.Phe302Leu | |
| XM_011544777.1:c.906C>G | XP_011543079.1:p.Phe302Leu | |
| XM_011544777.2:c.906C>G | XP_011543079.1:p.Phe302Leu | |
| NM_001163817.2:c.906C>G | NP_001157289.1:p.Phe302Leu | |
| NM_001360.3:c.906C>G MANE Select | NP_001351.2:p.Phe302Leu |