COSMIC:
COSM4419932 (not active)
Revel Score:
ENST00000257248 (MANE Select)
0.205
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20912027 (AFR)
Genomes Max Group AF
0.2047176 (AFR)
Exomes Max Group AF
0.21204227 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59845386T>C , CM000673.2:g.59845386T>C | GRCh38 |
| NC_000011.9:g.59612859T>C , CM000673.1:g.59612859T>C | GRCh37 |
| NC_000011.8:g.59369435T>C | NCBI36 |
| NG_008120.1:g.5116A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257248.3:c.68A>G MANE Select | ENSP00000257248.2:p.Gln23Arg | |
| ENST00000257248.2:c.68A>G | ENSP00000257248.2:p.Gln23Arg | |
| ENST00000525058.5:c.68A>G | ENSP00000433196.1:p.Gln23Arg | |
| ENST00000532070.1:n.114A>G | ||
| NM_005142.2:c.68A>G | NP_005133.2:p.Gln23Arg | |
| XM_011544939.1:c.68A>G | XP_011543241.1:p.Gln23Arg | |
| XM_011544939.3:c.68A>G | XP_011543241.1:p.Gln23Arg | |
| NM_005142.3:c.68A>G MANE Select | NP_005133.2:p.Gln23Arg |