ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7709339 (EAS)
Genomes Max Group AF
0.80587318 (EAS)
Exomes Max Group AF
0.76379656 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43972861C>T , CM000684.2:g.43972861C>T | GRCh38 |
| NC_000022.10:g.44368741C>T , CM000684.1:g.44368741C>T | GRCh37 |
| NC_000022.9:g.42700074C>T | NCBI36 |
| NG_029057.1:g.22481C>T | |
| NG_029057.2:g.22481C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.430-10C>T MANE Select | ENSP00000345445.4:n.430-10C>T | |
| ENST00000350028.4:c.430-10C>T | ENSP00000345445.4:n.430-10C>T | |
| ENST00000493161.1:n.612-10C>T | ||
| NM_015380.4:c.430-10C>T | NP_056195.3:n.430-10C>T | |
| NM_015380.5:c.430-10C>T MANE Select | NP_056195.3:n.430-10C>T |