gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00766622 (NFE)
Genomes Max Group AF
0.00683367 (NFE)
Exomes Max Group AF
0.00786232 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72738198C>T , CM000677.2:g.72738198C>T | GRCh38 |
| NC_000015.9:g.73030539C>T , CM000677.1:g.73030539C>T | GRCh37 |
| NC_000015.8:g.70817592C>T | NCBI36 |
| NG_009416.2:g.57014C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.*611C>T MANE Select | ENSP00000268057.4:n.*611C>T | |
| ENST00000268057.8:c.*611C>T | ENSP00000268057.4:n.*611C>T | |
| ENST00000395205.6:c.*611C>T | ENSP00000378631.3:n.*611C>T | |
| NM_001252678.1:c.*611C>T | NP_001239607.1:n.*611C>T | |
| NM_033028.4:c.*611C>T | NP_149017.2:n.*611C>T | |
| NR_045565.1:n.2278C>T | ||
| NR_045566.1:n.2533C>T | ||
| XM_006720625.2:c.*611C>T | XP_006720688.1:n.*611C>T | |
| XM_011521848.1:c.*611C>T | XP_011520150.1:n.*611C>T | |
| XM_011521849.1:c.*611C>T | XP_011520151.1:n.*611C>T | |
| XM_011521850.1:c.*611C>T | XP_011520152.1:n.*611C>T | |
| XM_011521851.1:c.*611C>T | XP_011520153.1:n.*611C>T | |
| NM_001320665.1:c.*611C>T | NP_001307594.1:n.*611C>T | |
| XM_017022450.1:c.*611C>T | XP_016877939.1:n.*611C>T | |
| XM_017022452.1:c.*611C>T | XP_016877941.1:n.*611C>T | |
| XM_017022453.1:c.*611C>T | XP_016877942.1:n.*611C>T | |
| XM_017022454.1:c.*611C>T | XP_016877943.1:n.*611C>T | |
| NM_033028.5:c.*611C>T MANE Select | NP_149017.2:n.*611C>T | |
| NM_001252678.2:c.*611C>T | NP_001239607.1:n.*611C>T | |
| NM_001320665.2:c.*611C>T | NP_001307594.1:n.*611C>T | |
| NR_045565.2:n.2250C>T | ||
| NR_045566.2:n.2505C>T |