COSMIC:
COSM4987730 (not active)
COSM4987731 (not active)
Revel Score:
ENST00000319441 (MANE Select)
0.220
ENST00000535860
0.220
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18762019 (MID)
Genomes Max Group AF
0.11654788 (NFE)
Exomes Max Group AF
0.18548328 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57563565A>G , CM000682.2:g.57563565A>G | GRCh38 |
| NC_000020.10:g.56138621A>G , CM000682.1:g.56138621A>G | GRCh37 |
| NC_000020.9:g.55572027A>G | NCBI36 |
| NG_008205.1:g.7485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.799A>G MANE Select | ENSP00000319814.4:p.Ile267Val | |
| ENST00000319441.5:c.799A>G | ENSP00000319814.4:p.Ile267Val | |
| ENST00000467047.1:n.2486A>G | ||
| ENST00000470051.1:n.383A>G | ||
| ENST00000498194.1:n.741A>G | ||
| NM_002591.3:c.799A>G | NP_002582.3:p.Ile267Val | |
| XM_011528839.1:c.403A>G | XP_011527141.1:p.Ile135Val | |
| XM_024451888.1:c.403A>G | XP_024307656.1:p.Ile135Val | |
| NM_002591.4:c.799A>G MANE Select | NP_002582.3:p.Ile267Val |