gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68287779 (AFR)
Genomes Max Group AF
0.67827255 (AFR)
Exomes Max Group AF
0.68402981 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111100751C>T , CM000667.2:g.111100751C>T | GRCh38 |
| NC_000005.9:g.110436450C>T , CM000667.1:g.110436450C>T | GRCh37 |
| NC_000005.8:g.110464349C>T | NCBI36 |
| NG_008979.1:g.13581C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513710.4:c.542+30C>T MANE Select | ENSP00000424628.3:n.542+30C>T | |
| ENST00000504122.2:n.424+30C>T | ||
| ENST00000505303.5:n.678+30C>T | ||
| ENST00000506538.6:c.710+30C>T | ENSP00000423067.2:n.710+30C>T | |
| ENST00000513710.3:c.542+30C>T | ENSP00000424628.3:n.542+30C>T | |
| ENST00000612402.4:c.710+30C>T | ENSP00000479950.1:n.710+30C>T | |
| NM_139281.2:c.710+30C>T | NP_644810.1:n.710+30C>T | |
| XM_011543163.1:c.710+30C>T | XP_011541465.1:n.710+30C>T | |
| NM_139281.3:c.542+30C>T MANE Select | NP_644810.2:n.542+30C>T |