gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004375 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Exomes Max Group AF
0.00002376 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29213985G>A , CM000664.2:g.29213985G>A | GRCh38 |
| NC_000002.11:g.29436851G>A , CM000664.1:g.29436851G>A | GRCh37 |
| NC_000002.10:g.29290355G>A | NCBI36 |
| NG_009445.1:g.712582C>T , LRG_488:g.712582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3742C>T MANE Select | ENSP00000373700.3:p.Arg1248Ter | |
| ENST00000431873.6:c.969C>T | ||
| ENST00000638605.1:n.619C>T | ||
| ENST00000642122.1:c.538C>T | ENSP00000493203.1:p.Arg180Ter | |
| ENST00000389048.7:c.3742C>T | ENSP00000373700.3:p.Arg1248Ter | |
| ENST00000431873.5:c.622C>T | ENSP00000414027.2:p.Arg208Ter | |
| ENST00000618119.4:c.2611C>T | ENSP00000482733.1:p.Arg871Ter | |
| NM_004304.4:c.3742C>T | NP_004295.2:p.Arg1248Ter | |
| NM_001353765.1:c.538C>T | NP_001340694.1:p.Arg180Ter | |
| XM_024452778.1:c.895C>T | XP_024308546.1:p.Arg299Ter | |
| XM_024452779.1:c.538C>T | XP_024308547.1:p.Arg180Ter | |
| NM_004304.5:c.3742C>T MANE Select | NP_004295.2:p.Arg1248Ter | |
| NM_001353765.2:c.538C>T | NP_001340694.1:p.Arg180Ter |