COSMIC:
COSM3763287 (not active)
Revel Score:
ENST00000521684
0.039
ENST00000521400 (MANE Select)
0.028
ENST00000518328
0.028
ENST00000517536
0.028
ENST00000380476
0.028
ENST00000415449
0.028
ENST00000518379
0.028
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21989122 (AFR)
Genomes Max Group AF
0.21600461 (AFR)
Exomes Max Group AF
0.22212141 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27500988A>G , CM000670.2:g.27500988A>G | GRCh38 |
| NC_000008.10:g.27358505A>G , CM000670.1:g.27358505A>G | GRCh37 |
| NC_000008.9:g.27414422A>G | NCBI36 |
| NG_012064.1:g.14861A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521400.6:c.164A>G MANE Select | ENSP00000430269.1:p.Lys55Arg | |
| ENST00000380476.7:c.5A>G | ENSP00000369843.3:p.Lys2Arg | |
| ENST00000517536.5:c.164A>G | ENSP00000428875.1:p.Lys55Arg | |
| ENST00000518328.5:c.164A>G | ENSP00000430779.1:p.Lys55Arg | |
| ENST00000518379.5:c.164A>G | ENSP00000427956.1:p.Lys55Arg | |
| ENST00000520623.5:n.248A>G | ||
| ENST00000520666.1:n.176A>G | ||
| ENST00000521400.5:c.164A>G | ENSP00000430269.1:p.Lys55Arg | |
| ENST00000521684.1:c.163A>G | ||
| ENST00000521780.5:c.-12-2616A>G | ENSP00000430302.1:n.-12-2616A>G | |
| ENST00000523827.1:n.387A>G | ||
| NM_001256482.1:c.5A>G | NP_001243411.1:p.Lys2Arg | |
| NM_001256483.1:c.-12-2616A>G | NP_001243412.1:n.-12-2616A>G | |
| NM_001256484.1:c.5A>G | NP_001243413.1:p.Lys2Arg | |
| NM_001979.5:c.164A>G | NP_001970.2:p.Lys55Arg | |
| XM_017013199.1:c.164A>G | XP_016868688.1:p.Lys55Arg | |
| XM_017013200.1:c.164A>G | XP_016868689.1:p.Lys55Arg | |
| XR_001745491.1:n.222A>G | ||
| NM_001256482.2:c.5A>G | NP_001243411.1:p.Lys2Arg | |
| NM_001256483.2:c.-12-2616A>G | NP_001243412.1:n.-12-2616A>G | |
| NM_001256484.2:c.5A>G | NP_001243413.1:p.Lys2Arg | |
| NM_001979.6:c.164A>G MANE Select | NP_001970.2:p.Lys55Arg |