gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07430781 (NFE)
Genomes Max Group AF
0.07430781 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46765116G>T , CM000681.2:g.46765116G>T | GRCh38 |
| NC_000019.9:g.47268373G>T , CM000681.1:g.47268373G>T | GRCh37 |
| NC_000019.8:g.51960213G>T | NCBI36 |
| NG_008898.2:g.24071G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600646.5:n.248-11536G>T (FKRP) | ||
| XM_005259167.3:c.1389-4721C>A (SLC1A5) | XP_005259224.1:n.1389-4721C>A | |
| XM_005259167.4:c.1389-4721C>A (SLC1A5) | XP_005259224.1:n.1389-4721C>A |