Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46765116G= , CM000681.2:g.46765116G= | GRCh38 |
| NC_000019.9:g.47268373G= , CM000681.1:g.47268373G= | GRCh37 |
| NC_000019.8:g.51960213G= | NCBI36 |
| NG_008898.2:g.24071G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600646.5:n.248-11536G= (FKRP) | |
| XM_005259167.3:c.1389-4721C= (SLC1A5) | XP_005259224.1:n.1389-4721C= |
| XM_005259167.4:c.1389-4721C= (SLC1A5) | XP_005259224.1:n.1389-4721C= |