gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76004426 (NFE)
Genomes Max Group AF
0.76004426 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.52832046G>T , CM000667.2:g.52832046G>T | GRCh38 |
| NC_000005.9:g.52127880G>T , CM000667.1:g.52127880G>T | GRCh37 |
| NC_000005.8:g.52163637G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282588.7:c.62-17319G>T MANE Select | ENSP00000282588.5:n.62-17319G>T | |
| ENST00000650673.1:c.62-17319G>T | ENSP00000498529.1:n.62-17319G>T | |
| ENST00000282588.6:c.62-17319G>T | ENSP00000282588.5:n.62-17319G>T | |
| NM_181501.1:c.62-17319G>T | NP_852478.1:n.62-17319G>T | |
| NM_181501.2:c.62-17319G>T MANE Select | NP_852478.1:n.62-17319G>T |