Revel Score:
ENST00000301458 (MANE Select)
0.187
ENST00000537716
0.187
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42013007 (AFR)
Genomes Max Group AF
0.41345513 (AFR)
Exomes Max Group AF
0.42490544 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8308268T>C , CM000681.2:g.8308268T>C | GRCh38 |
| NC_000019.9:g.8373152T>C , CM000681.1:g.8373152T>C | GRCh37 |
| NC_000019.8:g.8279152T>C | NCBI36 |
| NG_028124.1:g.5089A>G | |
| NG_028213.2:g.18129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301458.10:c.23A>G (CD320) MANE Select | ENSP00000301458.4:p.Gln8Arg | |
| ENST00000301458.9:c.23A>G (CD320) | ENSP00000301458.4:p.Gln8Arg | |
| ENST00000351593.9:c.-87-46264A>G (ELAVL1) | ENSP00000264073.6:n.-87-46264A>G | |
| ENST00000537716.6:c.23A>G (CD320) | ENSP00000437697.1:p.Gln8Arg | |
| ENST00000596002.5:c.23A>G (CD320) | ENSP00000471773.1:p.Gln8Arg | |
| ENST00000596246.1:n.89A>G (CD320) | ||
| ENST00000598299.1:n.68A>G (CD320) | ||
| ENST00000599573.1:c.4A>G (CD320) | ||
| NM_001165895.1:c.23A>G (CD320) | NP_001159367.1:p.Gln8Arg | |
| NM_016579.3:c.23A>G (CD320) | NP_057663.1:p.Gln8Arg | |
| NM_016579.4:c.23A>G (CD320) MANE Select | NP_057663.1:p.Gln8Arg | |
| NM_001165895.2:c.23A>G (CD320) | NP_001159367.1:p.Gln8Arg |