Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321448A>G , CM000681.2:g.8321448A>G | GRCh38 |
| NC_000019.9:g.8386332A>G , CM000681.1:g.8386332A>G | GRCh37 |
| NC_000019.8:g.8292332A>G | NCBI36 |
| NG_028213.1:g.4949T>C | |
| NG_028213.2:g.4949T>C | |
| NG_050637.1:g.4949A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000351593.9:c.-87-59444T>C (ELAVL1) | ENSP00000264073.6:n.-87-59444T>C |
| ENST00000449223.3:n.291A>G (RPS28) |