gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75659778 (EAS)
Genomes Max Group AF
0.75659778 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154733269T>C , CM000666.2:g.154733269T>C | GRCh38 |
| NC_000004.11:g.155654421T>C , CM000666.1:g.155654421T>C | GRCh37 |
| NC_000004.10:g.155873871T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000499392.1:n.471+1483T>C | ||
| ENST00000502525.5:c.-2+4486T>C | ENSP00000422324.1:n.-2+4486T>C | |
| XM_006714412.2:c.-2+4486T>C | XP_006714475.1:n.-2+4486T>C |