gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022844 (AFR)
Genomes Max Group AF
0.00022844 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2843367C>G , CM000686.2:g.2843367C>G | GRCh38 |
| NC_000024.9:g.2711408C>G , CM000686.1:g.2711408C>G | GRCh37 |
| NC_000024.8:g.2771408C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.327-710C>G | ||
| ENST00000681787.1:n.383-710C>G | ||
| ENST00000681940.1:n.107-2279C>G | ||
| ENST00000250784.13:c.82-710C>G MANE Select | ENSP00000250784.7:n.82-710C>G | |
| ENST00000250784.12:c.82-710C>G | ENSP00000250784.7:n.82-710C>G | |
| ENST00000430575.1:c.109-710C>G | ENSP00000415317.1:n.109-710C>G | |
| NM_001008.3:c.82-710C>G | NP_000999.1:n.82-710C>G | |
| NM_001008.4:c.82-710C>G MANE Select | NP_000999.1:n.82-710C>G |