gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50582251 (EAS)
Genomes Max Group AF
0.50582251 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.52522510G>A , CM000676.2:g.52522510G>A | GRCh38 |
| NC_000014.8:g.52989228G>A , CM000676.1:g.52989228G>A | GRCh37 |
| NC_000014.7:g.52058978G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281741.9:c.393-3217C>T MANE Select | ENSP00000281741.4:n.393-3217C>T | |
| ENST00000281741.8:c.393-3217C>T | ENSP00000281741.4:n.393-3217C>T | |
| ENST00000554399.1:n.207+29806C>T | ||
| ENST00000557374.1:c.-295+29806C>T | ENSP00000450839.1:n.-295+29806C>T | |
| NM_001160047.1:c.393-3232C>T | NP_001153519.1:n.393-3232C>T | |
| NM_020784.2:c.393-3217C>T | NP_065835.2:n.393-3217C>T | |
| XR_943497.1:n.822-3217C>T | ||
| XR_943498.1:n.822-3217C>T | ||
| XM_017021505.1:c.393-3217C>T | XP_016876994.1:n.393-3217C>T | |
| XR_001750462.1:n.822-3217C>T | ||
| XR_001750463.1:n.822-3217C>T | ||
| XR_001750464.1:n.494-3217C>T | ||
| XR_001750465.1:n.494-3217C>T | ||
| XR_001750466.1:n.494-3217C>T | ||
| NM_020784.3:c.393-3217C>T MANE Select | NP_065835.2:n.393-3217C>T | |
| NM_001160047.2:c.393-3232C>T | NP_001153519.1:n.393-3232C>T |