Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8377184C>T , CM000681.2:g.8377184C>T | GRCh38 |
| NC_000019.9:g.8442068C>T , CM000681.1:g.8442068C>T | GRCh37 |
| NC_000019.8:g.8348068C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+67822G>A (ELAVL1) | ENSP00000264073.6:n.-88+67822G>A | |
| NR_038237.1:n.684-117G>A (RAB11B-AS1) |