Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321449G>T , CM000681.2:g.8321449G>T | GRCh38 |
| NC_000019.9:g.8386333G>T , CM000681.1:g.8386333G>T | GRCh37 |
| NC_000019.8:g.8292333G>T | NCBI36 |
| NG_028213.1:g.4948C>A | |
| NG_028213.2:g.4948C>A | |
| NG_050637.1:g.4950G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-87-59445C>A (ELAVL1) | ENSP00000264073.6:n.-87-59445C>A | |
| ENST00000449223.3:n.292G>T (RPS28) |