COSMIC:
COSM5428589 (not active)
COSM5428590 (not active)
Revel Score:
ENST00000360608
0.388
ENST00000389970
0.388
ENST00000413640
0.388
ENST00000359033
0.388
ENST00000542856
0.388
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01012854 (AFR)
Genomes Max Group AF
0.00956589 (AFR)
Exomes Max Group AF
0.01026405 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126914C>T , CM000684.2:g.42126914C>T | GRCh38 |
| NC_000022.10:g.42522916C>T , CM000684.1:g.42522916C>T | GRCh37 |
| NC_000022.9:g.40852860C>T | NCBI36 |
| NG_008376.3:g.8078G>A | |
| NG_008376.4:g.8897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1050G>A | ENSP00000353241.6:n.1050G>A | |
| ENST00000645361.2:c.1252G>A MANE Select | ENSP00000496150.1:p.Glu418Lys | |
| ENST00000359033.4:c.1099G>A | ENSP00000351927.4:p.Glu367Lys | |
| ENST00000360124.9:c.870G>A | ENSP00000353241.5:n.870G>A | |
| ENST00000360608.9:c.1252G>A | ENSP00000353820.5:p.Glu418Lys | |
| ENST00000389970.7:c.1243G>A | ENSP00000374620.4:p.Glu415Lys | |
| ENST00000488442.1:n.1976G>A | ||
| NM_000106.5:c.1252G>A | NP_000097.3:p.Glu418Lys | |
| NM_001025161.2:c.1099G>A | NP_001020332.2:p.Glu367Lys | |
| XM_011529966.1:c.1252G>A | XP_011528268.1:p.Glu418Lys | |
| XM_011529967.1:c.1252G>A | XP_011528269.1:p.Glu418Lys | |
| XM_011529968.1:c.1252G>A | XP_011528270.1:p.Glu418Lys | |
| XM_011529969.1:c.1108G>A | XP_011528271.1:p.Glu370Lys | |
| XM_011529970.1:c.1099G>A | XP_011528272.1:p.Glu367Lys | |
| XM_011529971.1:c.1108G>A | XP_011528273.1:p.Glu370Lys | |
| NM_000106.6:c.1252G>A MANE Select | NP_000097.3:p.Glu418Lys | |
| NM_001025161.3:c.1099G>A | NP_001020332.2:p.Glu367Lys |