COSMIC:
COSM3759396 (not active)
Revel Score:
ENST00000218316 (MANE Select)
0.069
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5927179 (NFE)
Genomes Max Group AF
0.57668172 (NFE)
Exomes Max Group AF
0.59343144 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181399A>G , CM000685.2:g.151181399A>G | GRCh38 |
| NC_000023.10:g.150349871A>G , CM000685.1:g.150349871A>G | GRCh37 |
| NC_000023.9:g.150100529A>G | NCBI36 |
| NG_016405.1:g.9816A>G | |
| NG_016405.2:g.9816A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1816A>G MANE Select | ENSP00000218316.3:p.Ile606Val | |
| ENST00000218316.3:c.1816A>G | ENSP00000218316.3:p.Ile606Val | |
| ENST00000617907.1:c.1810A>G | ENSP00000484496.1:p.Ile604Val | |
| NM_004224.3:c.1816A>G MANE Select | NP_004215.2:p.Ile606Val | |
| XM_011531216.1:c.1075A>G | XP_011529518.1:p.Ile359Val | |
| XM_011531216.2:c.1075A>G | XP_011529518.1:p.Ile359Val |