COSMIC:
COSM5855030 (not active)
Revel Score:
ENST00000222248 (MANE Select)
0.966
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000953 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17882160G>A , CM000681.2:g.17882160G>A | GRCh38 |
| NC_000019.9:g.17992969G>A , CM000681.1:g.17992969G>A | GRCh37 |
| NC_000019.8:g.17853969G>A | NCBI36 |
| NG_012930.1:g.15188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222248.4:c.1183G>A MANE Select | ENSP00000222248.2:p.Gly395Arg | |
| ENST00000222248.3:c.1183G>A | ENSP00000222248.2:p.Gly395Arg | |
| ENST00000597109.1:n.182G>A | ||
| NM_000453.2:c.1183G>A | NP_000444.1:p.Gly395Arg | |
| XM_011528192.1:c.1216G>A | XP_011526494.1:p.Gly406Arg | |
| XM_011528193.1:c.949G>A | XP_011526495.1:p.Gly317Arg | |
| XM_011528194.1:c.850G>A | XP_011526496.1:p.Gly284Arg | |
| XM_011528192.2:c.1216G>A | XP_011526494.1:p.Gly406Arg | |
| XM_011528193.3:c.949G>A | XP_011526495.1:p.Gly317Arg | |
| XM_011528194.3:c.850G>A | XP_011526496.1:p.Gly284Arg | |
| XM_017027158.1:c.916G>A | XP_016882647.1:p.Gly306Arg | |
| NM_000453.3:c.1183G>A MANE Select | NP_000444.1:p.Gly395Arg |