Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321443A>C , CM000681.2:g.8321443A>C | GRCh38 |
| NC_000019.9:g.8386327A>C , CM000681.1:g.8386327A>C | GRCh37 |
| NC_000019.8:g.8292327A>C | NCBI36 |
| NG_028213.1:g.4954T>G | |
| NG_028213.2:g.4954T>G | |
| NG_050637.1:g.4944A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-87-59439T>G (ELAVL1) | ENSP00000264073.6:n.-87-59439T>G | |
| ENST00000449223.3:n.286A>C (RPS28) |