gnomAD v4:
Joint Max Group AF
0.00000259 (NFE)
Exomes Max Group AF
0.00000275 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321446G>A , CM000681.2:g.8321446G>A | GRCh38 |
| NC_000019.9:g.8386330G>A , CM000681.1:g.8386330G>A | GRCh37 |
| NC_000019.8:g.8292330G>A | NCBI36 |
| NG_028213.1:g.4951C>T | |
| NG_028213.2:g.4951C>T | |
| NG_050637.1:g.4947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-87-59442C>T (ELAVL1) | ENSP00000264073.6:n.-87-59442C>T | |
| ENST00000449223.3:n.289G>A (RPS28) |