COSMIC:
COSM1180607 (not active)
COSM1180608 (not active)
Revel Score:
ENST00000434618 (MANE Select)
0.064
ENST00000475304
0.064
ENST00000489157
0.064
ENST00000426633
0.064
ENST00000456592
0.064
ENST00000449540
0.064
ENST00000437741
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73511076 (AFR)
Genomes Max Group AF
0.72904716 (AFR)
Exomes Max Group AF
0.73786404 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33305078G>C , CM000668.2:g.33305078G>C | GRCh38 |
| NC_000006.11:g.33272855G>C , CM000668.1:g.33272855G>C | GRCh37 |
| NC_000006.10:g.33380833G>C | NCBI36 |
| NG_009876.1:g.14135C>G , LRG_114:g.14135C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467025.2:c.608C>G | ENSP00000417523.2:p.Thr203Arg | |
| ENST00000489157.6:c.518C>G | ENSP00000419659.1:p.Thr173Arg | |
| ENST00000699647.1:n.1238C>G | ||
| ENST00000699648.1:c.779C>G | ENSP00000514499.1:p.Thr260Arg | |
| ENST00000699649.1:c.227C>G | ENSP00000514500.1:p.Thr76Arg | |
| ENST00000699650.1:c.503C>G | ENSP00000514501.1:p.Thr168Arg | |
| ENST00000699651.1:c.227C>G | ENSP00000514502.1:p.Thr76Arg | |
| ENST00000699652.1:c.779C>G | ENSP00000514503.1:p.Thr260Arg | |
| ENST00000699653.1:n.1167C>G | ||
| ENST00000699654.1:c.518C>G | ENSP00000514504.1:p.Thr173Arg | |
| ENST00000699655.1:n.992C>G | ||
| ENST00000699656.1:c.779C>G | ENSP00000514505.1:p.Thr260Arg | |
| ENST00000699657.1:c.779C>G | ENSP00000514506.1:p.Thr260Arg | |
| ENST00000699659.1:c.779C>G | ENSP00000514507.1:p.Thr260Arg | |
| ENST00000699660.1:n.992C>G | ||
| ENST00000699661.1:n.992C>G | ||
| ENST00000699662.1:n.623C>G | ||
| ENST00000699663.1:n.992C>G | ||
| ENST00000699664.1:n.992C>G | ||
| ENST00000434618.7:c.779C>G MANE Select | ENSP00000395701.2:p.Thr260Arg | |
| ENST00000426633.6:c.779C>G | ENSP00000404833.2:p.Thr260Arg | |
| ENST00000434618.6:c.779C>G | ENSP00000395701.2:p.Thr260Arg | |
| ENST00000437116.2:n.779C>G | ||
| ENST00000456592.3:c.390-697C>G | ENSP00000387803.3:n.390-697C>G | |
| ENST00000475304.5:c.833C>G | ENSP00000417949.1:p.Thr278Arg | |
| ENST00000480730.5:n.787C>G | ||
| ENST00000489157.5:c.518C>G | ENSP00000419659.1:p.Thr173Arg | |
| NM_003190.4:c.779C>G , LRG_114t1:c.779C>G | NP_003181.3:p.Thr260Arg | |
| NM_172208.2:c.779C>G | NP_757345.2:p.Thr260Arg | |
| NM_172209.2:c.518C>G | NP_757346.2:p.Thr173Arg | |
| XM_011514828.1:c.779C>G | XP_011513130.1:p.Thr260Arg | |
| XM_011514828.3:c.779C>G | XP_011513130.1:p.Thr260Arg | |
| XM_017011227.1:c.779C>G | XP_016866716.1:p.Thr260Arg | |
| NM_003190.5:c.779C>G MANE Select | NP_003181.3:p.Thr260Arg | |
| NM_172209.3:c.518C>G | NP_757346.2:p.Thr173Arg | |
| NM_172208.3:c.779C>G | NP_757345.2:p.Thr260Arg |