gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011205 (AFR)
Genomes Max Group AF
0.00011205 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6866606G>A , CM000686.2:g.6866606G>A | GRCh38 |
| NC_000024.9:g.6734647G>A , CM000686.1:g.6734647G>A | GRCh37 |
| NC_000024.8:g.6794647G>A | NCBI36 |
| NG_008011.1:g.12422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651267.2:c.574-528C>T MANE Select | ENSP00000498344.1:n.574-528C>T | |
| ENST00000215479.10:c.574-528C>T | ENSP00000215479.5:n.574-528C>T | |
| ENST00000651267.1:c.574-528C>T | ENSP00000498344.1:n.574-528C>T | |
| ENST00000215479.9:c.574-528C>T | ENSP00000215479.5:n.574-528C>T | |
| ENST00000383036.1:c.616-528C>T | ENSP00000372505.1:n.616-528C>T | |
| NM_001143.1:c.574-528C>T | NP_001134.1:n.574-528C>T | |
| XM_011531472.1:c.616-528C>T | XP_011529774.1:n.616-528C>T | |
| NM_001364814.1:c.616-528C>T | NP_001351743.1:n.616-528C>T | |
| NM_001143.2:c.574-528C>T MANE Select | NP_001134.1:n.574-528C>T |