gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35130019 (SAS)
Genomes Max Group AF
0.35130019 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23204120T>C , CM000670.2:g.23204120T>C | GRCh38 |
| NC_000008.10:g.23061633T>C , CM000670.1:g.23061633T>C | GRCh37 |
| NC_000008.9:g.23117578T>C | NCBI36 |
| NG_032107.1:g.26048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.404-1359A>G MANE Select | ENSP00000221132.3:n.404-1359A>G | |
| ENST00000221132.7:c.404-1359A>G | ENSP00000221132.3:n.404-1359A>G | |
| ENST00000524158.5:c.-203-1359A>G | ENSP00000428884.1:n.-203-1359A>G | |
| ENST00000613472.1:c.32-1461A>G | ENSP00000480778.1:n.32-1461A>G | |
| NM_003844.3:c.404-1359A>G | NP_003835.3:n.404-1359A>G | |
| NM_003844.4:c.404-1359A>G MANE Select | NP_003835.3:n.404-1359A>G |