COSMIC:
COSM4132802 (not active)
Revel Score:
ENST00000301458 (MANE Select)
0.226
ENST00000537716
0.226
ENST00000323539
0.004
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30345202 (AFR)
Genomes Max Group AF
0.29855815 (AFR)
Exomes Max Group AF
0.30645385 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8302825C>T , CM000681.2:g.8302825C>T | GRCh38 |
| NC_000019.9:g.8367709C>T , CM000681.1:g.8367709C>T | GRCh37 |
| NC_000019.8:g.8273709C>T | NCBI36 |
| NG_028124.1:g.10532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.658G>A (CD320) MANE Select | ENSP00000301458.4:p.Gly220Arg | |
| ENST00000301458.9:c.658G>A (CD320) | ENSP00000301458.4:p.Gly220Arg | |
| ENST00000351593.9:c.-87-40821G>A (ELAVL1) | ENSP00000264073.6:n.-87-40821G>A | |
| ENST00000537716.6:c.532G>A (CD320) | ENSP00000437697.1:p.Gly178Arg | |
| ENST00000596002.5:c.*946G>A (CD320) | ENSP00000471773.1:n.*946G>A | |
| ENST00000599573.1:c.524G>A (CD320) | ||
| NM_001165895.1:c.532G>A (CD320) | NP_001159367.1:p.Gly178Arg | |
| NM_016579.3:c.658G>A (CD320) | NP_057663.1:p.Gly220Arg | |
| NM_016579.4:c.658G>A (CD320) MANE Select | NP_057663.1:p.Gly220Arg | |
| NM_001165895.2:c.532G>A (CD320) | NP_001159367.1:p.Gly178Arg |