gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.73192948 (AFR)
Genomes Max Group AF
0.73192948 (AFR)
Exomes Max Group AF
0.31825014 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63805309C>T , CM000680.2:g.63805309C>T | GRCh38 |
| NC_000018.9:g.61472543C>T , CM000680.1:g.61472543C>T | GRCh37 |
| NC_000018.8:g.59623523C>T | NCBI36 |
| NG_034150.1:g.57263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398019.7:c.*674C>T MANE Select | ENSP00000381101.2:n.*674C>T | |
| ENST00000336429.6:c.*674C>T | ENSP00000337212.2:n.*674C>T | |
| ENST00000398019.6:c.*674C>T | ENSP00000381101.2:n.*674C>T | |
| ENST00000540675.5:c.*674C>T | ENSP00000444572.1:n.*674C>T | |
| ENST00000546027.5:c.*674C>T | ENSP00000444861.1:n.*674C>T | |
| NM_001040147.2:c.*674C>T | NP_001035237.1:n.*674C>T | |
| NM_001261830.1:c.*674C>T | NP_001248759.1:n.*674C>T | |
| NM_001261831.1:c.*674C>T | NP_001248760.1:n.*674C>T | |
| NM_003784.3:c.*674C>T | NP_003775.1:n.*674C>T | |
| XM_006722562.1:c.*674C>T | XP_006722625.1:n.*674C>T | |
| XM_011526236.1:c.*674C>T | XP_011524538.1:n.*674C>T | |
| XM_024451278.1:c.*674C>T | XP_024307046.1:n.*674C>T | |
| NM_003784.4:c.*674C>T MANE Select | NP_003775.1:n.*674C>T | |
| NM_001040147.3:c.*674C>T | NP_001035237.1:n.*674C>T | |
| NM_001261830.2:c.*674C>T | NP_001248759.1:n.*674C>T | |
| NM_001261831.2:c.*674C>T | NP_001248760.1:n.*674C>T |