gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00069791 (AFR)
Genomes Max Group AF
0.00076947 (AFR)
Exomes Max Group AF
0.00046923 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91993884G>A , CM000676.2:g.91993884G>A | GRCh38 |
| NC_000014.8:g.92460228G>A , CM000676.1:g.92460228G>A | GRCh37 |
| NC_000014.7:g.91529981G>A | NCBI36 |
| NG_016970.1:g.51176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5085C>T MANE Select | ENSP00000267622.4:p.Leu1695= | |
| ENST00000554357.5:c.4231C>T | ||
| ENST00000557017.1:c.333C>T | ENSP00000451607.1:p.Leu111= | |
| NM_004239.3:c.5085C>T | NP_004230.2:p.Leu1695= | |
| XM_005268214.2:c.3759C>T | XP_005268271.1:p.Leu1253= | |
| XM_005268215.2:c.2055C>T | XP_005268272.1:p.Leu685= | |
| XM_006720321.2:c.5082C>T | XP_006720384.1:p.Leu1694= | |
| XM_011537361.1:c.*4C>T | XP_011535663.1:n.*4C>T | |
| XR_943560.1:n.5540C>T | ||
| NM_001321851.1:c.5082C>T | NP_001308780.1:p.Leu1694= | |
| NM_004239.4:c.5085C>T MANE Select | NP_004230.2:p.Leu1695= | |
| XM_017021787.2:c.4380C>T | XP_016877276.1:p.Leu1460= | |
| XM_017021788.2:c.3759C>T | XP_016877277.1:p.Leu1253= | |
| XR_001750598.2:n.5370C>T | ||
| XR_943560.2:n.5534C>T |