COSMIC:
COSM4002752 (not active)
Revel Score:
ENST00000479230
0.033
ENST00000418458 (MANE Select)
0.033
ENST00000394799
0.033
ENST00000474423
0.033
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4978483 (AMR)
Genomes Max Group AF
0.45089686 (AMR)
Exomes Max Group AF
0.51161992 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52687289G>A , CM000665.2:g.52687289G>A | GRCh38 |
| NC_000003.11:g.52721305G>A , CM000665.1:g.52721305G>A | GRCh37 |
| NC_000003.10:g.52696345G>A | NCBI36 |
| NG_027871.1:g.6370G>A | |
| NG_032108.1:g.3562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418458.6:c.116G>A MANE Select | ENSP00000395772.1:p.Arg39Gln | |
| ENST00000394799.6:c.80G>A | ENSP00000378278.2:p.Arg27Gln | |
| ENST00000418458.5:c.116G>A | ENSP00000395772.1:p.Arg39Gln | |
| ENST00000460073.1:n.293G>A | ||
| ENST00000462550.5:n.177G>A | ||
| ENST00000468146.5:n.204G>A | ||
| ENST00000474423.1:c.80G>A | ENSP00000419895.1:p.Arg27Gln | |
| ENST00000479230.5:c.80G>A | ENSP00000419734.1:p.Arg27Gln | |
| ENST00000492349.5:c.116G>A | ENSP00000420345.1:p.Arg39Gln | |
| ENST00000496254.5:n.160G>A | ||
| NM_014366.4:c.116G>A | NP_055181.3:p.Arg39Gln | |
| NM_206825.1:c.80G>A | NP_996561.1:p.Arg27Gln | |
| NM_206826.1:c.80G>A | NP_996562.1:p.Arg27Gln | |
| NM_014366.5:c.116G>A MANE Select | NP_055181.3:p.Arg39Gln | |
| NM_206825.2:c.80G>A | NP_996561.1:p.Arg27Gln |