gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37906273 (AFR)
Genomes Max Group AF
0.37993941 (AFR)
Exomes Max Group AF
0.36737724 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939160T>G , CM000670.2:g.19939160T>G | GRCh38 |
| NC_000008.10:g.19796671T>G , CM000670.1:g.19796671T>G | GRCh37 |
| NC_000008.9:g.19840951T>G | NCBI36 |
| NG_008855.1:g.5090T>G | |
| NG_008855.2:g.42444T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311322.8:c.-281T>G | ENSP00000309757.6:n.-281T>G | |
| ENST00000520959.5:c.-140-9020T>G | ENSP00000428496.1:n.-140-9020T>G | |
| ENST00000522701.5:c.-218-63T>G | ENSP00000428557.1:n.-218-63T>G | |
| ENST00000524029.5:c.-153-128T>G | ENSP00000428237.1:n.-153-128T>G | |
| NM_000237.2:c.-281T>G | NP_000228.1:n.-281T>G |