Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8377122C>A , CM000681.2:g.8377122C>A | GRCh38 |
| NC_000019.9:g.8442006C>A , CM000681.1:g.8442006C>A | GRCh37 |
| NC_000019.8:g.8348006C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+67884G>T (ELAVL1) | ENSP00000264073.6:n.-88+67884G>T | |
| NR_038237.1:n.684-55G>T (RAB11B-AS1) |