gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69438064 (SAS)
Genomes Max Group AF
0.69438064 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117270390G>A , CM000674.2:g.117270390G>A | GRCh38 |
| NC_000012.11:g.117708195G>A , CM000674.1:g.117708195G>A | GRCh37 |
| NC_000012.10:g.116192578G>A | NCBI36 |
| NG_011991.2:g.96388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317775.11:c.1839+1995C>T MANE Select | ENSP00000320758.6:n.1839+1995C>T | |
| ENST00000317775.10:c.1839+1995C>T | ENSP00000320758.6:n.1839+1995C>T | |
| ENST00000338101.8:c.1839+1995C>T | ENSP00000337459.4:n.1839+1995C>T | |
| ENST00000344089.4:c.1836+1995C>T | ENSP00000339862.4:n.1836+1995C>T | |
| ENST00000618760.4:c.1839+1995C>T | ENSP00000477999.1:n.1839+1995C>T | |
| NM_000620.4:c.1839+1995C>T | NP_000611.1:n.1839+1995C>T | |
| NM_001204213.1:c.831+1995C>T | NP_001191142.1:n.831+1995C>T | |
| NM_001204214.1:c.831+1995C>T | NP_001191143.1:n.831+1995C>T | |
| NM_001204218.1:c.1839+1995C>T | NP_001191147.1:n.1839+1995C>T | |
| XM_011538398.1:c.1839+1995C>T | XP_011536700.1:n.1839+1995C>T | |
| NM_000620.5:c.1839+1995C>T MANE Select | NP_000611.1:n.1839+1995C>T | |
| NM_001204213.2:c.831+1995C>T | NP_001191142.1:n.831+1995C>T | |
| NM_001204214.2:c.831+1995C>T | NP_001191143.1:n.831+1995C>T | |
| NM_001204218.2:c.1839+1995C>T | NP_001191147.1:n.1839+1995C>T |