Linked Data
ClinVar Variation Id:
658626
dbSNP Id:
rs184297154
gnomAD v3:
11-71437923-G-T
gnomAD v4:
11-71437923-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437923G>T , CM000673.2:g.71437923G>T | GRCh38 |
| NC_000011.9:g.71148969G>T , CM000673.1:g.71148969G>T | GRCh37 |
| NC_000011.8:g.70826617G>T | NCBI36 |
| NG_012655.2:g.15509C>A , LRG_340:g.15509C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.852C>A | ENSP00000435707.3:p.Phe284Leu | |
| ENST00000526780.6:c.852C>A | ENSP00000435668.2:p.Phe284Leu | |
| ENST00000527316.6:c.678C>A | ENSP00000435047.2:p.Phe226Leu | |
| ENST00000682708.1:c.903C>A | ENSP00000506866.1:p.Phe301Leu | |
| ENST00000682880.1:c.852C>A | ENSP00000507520.1:p.Phe284Leu | |
| ENST00000683287.1:c.888C>A | ENSP00000507607.1:p.Phe296Leu | |
| ENST00000683714.1:c.852C>A | ENSP00000508207.1:p.Phe284Leu | |
| ENST00000684396.1:n.892C>A | ||
| ENST00000685320.1:c.267C>A | ENSP00000509319.1:p.Phe89Leu | |
| ENST00000690257.1:c.756C>A | ENSP00000510750.1:p.Phe252Leu | |
| ENST00000355527.8:c.852C>A MANE Select | ENSP00000347717.4:p.Phe284Leu | |
| ENST00000355527.7:c.852C>A | ENSP00000347717.3:p.Phe284Leu | |
| ENST00000407721.6:c.852C>A | ENSP00000384739.2:p.Phe284Leu | |
| ENST00000525137.1:c.219C>A | ENSP00000435956.1:p.Phe73Leu | |
| ENST00000527316.5:c.756C>A | ENSP00000435047.1:p.Phe252Leu | |
| ENST00000533800.5:c.102C>A | ENSP00000435011.1:p.Phe34Leu | |
| ENST00000534795.5:c.208C>A | ||
| NM_001163817.1:c.852C>A | NP_001157289.1:p.Phe284Leu | |
| NM_001360.2:c.852C>A , LRG_340t1:c.852C>A | NP_001351.2:p.Phe284Leu | |
| XM_011544777.1:c.852C>A | XP_011543079.1:p.Phe284Leu | |
| XM_011544777.2:c.852C>A | XP_011543079.1:p.Phe284Leu | |
| NM_001163817.2:c.852C>A | NP_001157289.1:p.Phe284Leu | |
| NM_001360.3:c.852C>A MANE Select | NP_001351.2:p.Phe284Leu |