gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321447G>C , CM000681.2:g.8321447G>C | GRCh38 |
| NC_000019.9:g.8386331G>C , CM000681.1:g.8386331G>C | GRCh37 |
| NC_000019.8:g.8292331G>C | NCBI36 |
| NG_028213.1:g.4950C>G | |
| NG_028213.2:g.4950C>G | |
| NG_050637.1:g.4948G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-87-59443C>G (ELAVL1) | ENSP00000264073.6:n.-87-59443C>G | |
| ENST00000449223.3:n.290G>C (RPS28) |