gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21647465 (AMR)
Genomes Max Group AF
0.21647465 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107059007C>T , CM000674.2:g.107059007C>T | GRCh38 |
| NC_000012.11:g.107452785C>T , CM000674.1:g.107452785C>T | GRCh37 |
| NC_000012.10:g.105976915C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.158+33797G>A MANE Select | ENSP00000008527.5:n.158+33797G>A | |
| ENST00000008527.9:c.158+33797G>A | ENSP00000008527.5:n.158+33797G>A | |
| NM_004075.4:c.158+33797G>A | NP_004066.1:n.158+33797G>A | |
| XM_011537939.1:c.74+13928G>A | XP_011536241.1:n.74+13928G>A | |
| XM_017018832.2:c.74+13928G>A | XP_016874321.1:n.74+13928G>A | |
| XM_024448844.1:c.158+33797G>A | XP_024304612.1:n.158+33797G>A | |
| XM_024448845.1:c.74+13928G>A | XP_024304613.1:n.74+13928G>A | |
| NM_004075.5:c.158+33797G>A MANE Select | NP_004066.1:n.158+33797G>A |