gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70798342 (AFR)
Genomes Max Group AF
0.69969195 (AFR)
Exomes Max Group AF
0.71177492 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2854465A>G , CM000686.2:g.2854465A>G | GRCh38 |
| NC_000024.9:g.2722506A>G , CM000686.1:g.2722506A>G | GRCh37 |
| NC_000024.8:g.2782506A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681940.1:n.205-135A>G | ||
| ENST00000250784.13:c.361-135A>G MANE Select | ENSP00000250784.7:n.361-135A>G | |
| ENST00000250784.12:c.361-135A>G | ENSP00000250784.7:n.361-135A>G | |
| ENST00000430575.1:c.388-135A>G | ENSP00000415317.1:n.388-135A>G | |
| ENST00000477725.1:n.370A>G | ||
| NM_001008.3:c.361-135A>G | NP_000999.1:n.361-135A>G | |
| NM_001008.4:c.361-135A>G MANE Select | NP_000999.1:n.361-135A>G |