COSMIC:
COSM329395 (not active)
COSM3747679 (not active)
Revel Score:
ENST00000418931 (MANE Select)
0.389
ENST00000535465
0.389
ENST00000411942
0.389
ENST00000428835
0.389
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3780729 (AFR)
Genomes Max Group AF
0.36579697 (AFR)
Exomes Max Group AF
0.38988806 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33080884A>G , CM000668.2:g.33080884A>G | GRCh38 |
| NC_000006.11:g.33048661A>G , CM000668.1:g.33048661A>G | GRCh37 |
| NC_000006.10:g.33156639A>G | NCBI36 |
| NG_033241.1:g.4895T>C | |
| NG_033242.1:g.9959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418931.7:c.313A>G MANE Select | ENSP00000408146.2:p.Met105Val | |
| ENST00000416804.1:c.213A>G | ||
| ENST00000418931.6:c.313A>G | ENSP00000408146.2:p.Met105Val | |
| ENST00000428835.5:c.244A>G | ENSP00000412654.1:p.Met82Val | |
| ENST00000469120.1:n.345A>G | ||
| ENST00000471184.5:n.362A>G | ||
| ENST00000488575.1:n.362A>G | ||
| ENST00000498038.1:n.442A>G | ||
| NM_002121.5:c.313A>G | NP_002112.3:p.Met105Val | |
| XM_006715078.2:c.1A>G | XP_006715141.1:p.Met1Val | |
| NM_002121.6:c.313A>G MANE Select | NP_002112.3:p.Met105Val |