Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8377085A>C , CM000681.2:g.8377085A>C | GRCh38 |
| NC_000019.9:g.8441969A>C , CM000681.1:g.8441969A>C | GRCh37 |
| NC_000019.8:g.8347969A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+67921T>G (ELAVL1) | ENSP00000264073.6:n.-88+67921T>G | |
| NR_038237.1:n.684-18T>G (RAB11B-AS1) |