COSMIC:
COSM5020199 (not active)
COSM5020200 (not active)
Revel Score:
ENST00000360608
0.602
ENST00000389970
0.602
ENST00000413640
0.602
ENST00000359033
0.602
ENST00000542856
0.602
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08590225 (AFR)
Genomes Max Group AF
0.08357826 (AFR)
Exomes Max Group AF
0.08713542 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127608C>T , CM000684.2:g.42127608C>T | GRCh38 |
| NC_000022.10:g.42523610C>T , CM000684.1:g.42523610C>T | GRCh37 |
| NC_000022.9:g.40853554C>T | NCBI36 |
| NG_008376.3:g.7384G>A | |
| NG_008376.4:g.8203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.810G>A | ENSP00000353241.6:n.810G>A | |
| ENST00000645361.2:c.1012G>A MANE Select | ENSP00000496150.1:p.Val338Met | |
| ENST00000359033.4:c.859G>A | ENSP00000351927.4:p.Val287Met | |
| ENST00000360124.9:c.630G>A | ENSP00000353241.5:n.630G>A | |
| ENST00000360608.9:c.1012G>A | ENSP00000353820.5:p.Val338Met | |
| ENST00000389970.7:c.1003G>A | ENSP00000374620.4:p.Val335Met | |
| ENST00000488442.1:n.1736G>A | ||
| NM_000106.5:c.1012G>A | NP_000097.3:p.Val338Met | |
| NM_001025161.2:c.859G>A | NP_001020332.2:p.Val287Met | |
| XM_011529966.1:c.1012G>A | XP_011528268.1:p.Val338Met | |
| XM_011529967.1:c.1012G>A | XP_011528269.1:p.Val338Met | |
| XM_011529968.1:c.1012G>A | XP_011528270.1:p.Val338Met | |
| XM_011529969.1:c.868G>A | XP_011528271.1:p.Val290Met | |
| XM_011529970.1:c.859G>A | XP_011528272.1:p.Val287Met | |
| XM_011529971.1:c.868G>A | XP_011528273.1:p.Val290Met | |
| XM_011529972.1:c.870G>A | XP_011528274.1:p.Thr290= | |
| NM_000106.6:c.1012G>A MANE Select | NP_000097.3:p.Val338Met | |
| NM_001025161.3:c.859G>A | NP_001020332.2:p.Val287Met |