gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32919233 (AFR)
Genomes Max Group AF
0.32917593 (AFR)
Exomes Max Group AF
0.08884008 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.103045378G>A , CM000675.2:g.103045378G>A | GRCh38 |
| NC_000013.10:g.103697728G>A , CM000675.1:g.103697728G>A | GRCh37 |
| NC_000013.9:g.102495729G>A | NCBI36 |
| NG_016648.1:g.26469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245312.5:c.*755C>T MANE Select | ENSP00000245312.3:n.*755C>T | |
| ENST00000245312.4:c.*755C>T | ENSP00000245312.3:n.*755C>T | |
| NM_000452.2:c.*755C>T | NP_000443.1:n.*755C>T | |
| NM_000452.3:c.*755C>T MANE Select | NP_000443.2:n.*755C>T |