Linked Data
ClinVar Variation Id:
341048
ClinVar RCV Id:
RCV000279635
dbSNP Id:
rs750427170
ExAC:
22:27008060 C / T
gnomAD v2:
22-27008060-C-T
gnomAD v3:
22-26612096-C-T
gnomAD v4:
22-26612096-C-T
COSMIC:
COSM295450
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26612096C>T , CM000684.2:g.26612096C>T | GRCh38 |
| NC_000022.10:g.27008060C>T , CM000684.1:g.27008060C>T | GRCh37 |
| NC_000022.9:g.25338060C>T | NCBI36 |
| NG_009826.1:g.10932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647684.1:c.275G>A (CRYBB1) MANE Select | ENSP00000497249.1:p.Arg92His | |
| ENST00000215939.2:c.275G>A (CRYBB1) | ENSP00000215939.2:p.Arg92His | |
| NM_001887.3:c.275G>A (CRYBB1) | NP_001878.1:p.Arg92His | |
| XM_006724140.2:c.3+4034C>T (CRYBA4) | XP_006724203.1:n.3+4034C>T | |
| XM_011529898.1:c.23+4034C>T (CRYBA4) | XP_011528200.1:n.23+4034C>T | |
| XM_011529899.1:c.275G>A (CRYBB1) | XP_011528201.1:p.Arg92His | |
| NM_001887.4:c.275G>A (CRYBB1) MANE Select | NP_001878.1:p.Arg92His | |
| XM_006724140.3:c.3+4034C>T (CRYBA4) | XP_006724203.1:n.3+4034C>T | |
| XM_011529899.3:c.275G>A (CRYBB1) | XP_011528201.1:p.Arg92His |