gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001924 (AFR)
Genomes Max Group AF
0.00001924 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78925357G>A , CM000679.2:g.78925357G>A | GRCh38 |
| NC_000017.10:g.76921439G>A , CM000679.1:g.76921439G>A | GRCh37 |
| NC_000017.9:g.74433034G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262768.11:c.-269C>T MANE Select | ENSP00000262768.6:n.-269C>T | |
| NM_003255.4:c.-269C>T | NP_003246.1:n.-269C>T | |
| NM_003255.5:c.-269C>T MANE Select | NP_003246.1:n.-269C>T |