gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01230882 (AFR)
Genomes Max Group AF
0.01231059 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23800471G>C , CM000663.2:g.23800471G>C | GRCh38 |
| NC_000001.10:g.24126961G>C , CM000663.1:g.24126961G>C | GRCh37 |
| NC_000001.9:g.23999548G>C | NCBI36 |
| NG_007068.1:g.5334C>G | |
| NG_013061.1:g.29989C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.-77+241C>G MANE Select | ENSP00000483375.1:n.-77+241C>G | |
| ENST00000418277.5:c.-143+241C>G | ENSP00000414719.1:n.-143+241C>G | |
| ENST00000425913.5:c.-240C>G | ENSP00000393359.1:n.-240C>G | |
| ENST00000459934.5:n.42+241C>G | ||
| ENST00000466250.5:n.50+241C>G | ||
| ENST00000467070.1:n.62+241C>G | ||
| ENST00000470383.1:n.282C>G | ||
| ENST00000481736.5:n.70+241C>G | ||
| ENST00000617979.4:c.-77+241C>G | ENSP00000483375.1:n.-77+241C>G | |
| NM_000403.3:c.-161C>G | NP_000394.2:n.-161C>G | |
| NM_001008216.1:c.-77+241C>G | NP_001008217.1:n.-77+241C>G | |
| NM_001008216.2:c.-77+241C>G MANE Select | NP_001008217.1:n.-77+241C>G | |
| NM_000403.4:c.-161C>G | NP_000394.2:n.-161C>G |