gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77656621 (EAS)
Genomes Max Group AF
0.77656621 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26615456C>T , CM000684.2:g.26615456C>T | GRCh38 |
| NC_000022.10:g.27011420C>T , CM000684.1:g.27011420C>T | GRCh37 |
| NC_000022.9:g.25341420C>T | NCBI36 |
| NG_009826.1:g.7572G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647684.1:c.180+684G>A (CRYBB1) MANE Select | ENSP00000497249.1:n.180+684G>A | |
| ENST00000215939.2:c.180+684G>A (CRYBB1) | ENSP00000215939.2:n.180+684G>A | |
| NM_001887.3:c.180+684G>A (CRYBB1) | NP_001878.1:n.180+684G>A | |
| XM_006724140.2:c.4-7129C>T (CRYBA4) | XP_006724203.1:n.4-7129C>T | |
| XM_011529898.1:c.24-6452C>T (CRYBA4) | XP_011528200.1:n.24-6452C>T | |
| XM_011529899.1:c.180+684G>A (CRYBB1) | XP_011528201.1:n.180+684G>A | |
| NM_001887.4:c.180+684G>A (CRYBB1) MANE Select | NP_001878.1:n.180+684G>A | |
| XM_006724140.3:c.4-7129C>T (CRYBA4) | XP_006724203.1:n.4-7129C>T | |
| XM_011529899.3:c.180+684G>A (CRYBB1) | XP_011528201.1:n.180+684G>A |