gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001138 (AFR)
Genomes Max Group AF
0.00000885 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151009295C>T , CM000669.2:g.151009295C>T | GRCh38 |
| NC_000007.13:g.150706383C>T , CM000669.1:g.150706383C>T | GRCh37 |
| NC_000007.12:g.150337316C>T | NCBI36 |
| NG_011992.1:g.23237C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.2324+28C>T MANE Select | ENSP00000297494.3:n.2324+28C>T | |
| ENST00000297494.7:c.2324+28C>T | ENSP00000297494.3:n.2324+28C>T | |
| ENST00000461406.5:c.1706+28C>T | ENSP00000417143.1:n.1706+28C>T | |
| ENST00000473057.1:n.268+28C>T | ||
| ENST00000475017.1:c.205+28C>T | ||
| NM_000603.4:c.2324+28C>T | NP_000594.2:n.2324+28C>T | |
| NM_000603.5:c.2324+28C>T MANE Select | NP_000594.2:n.2324+28C>T |