gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02743919 (EAS)
Genomes Max Group AF
0.02298773 (EAS)
Exomes Max Group AF
0.02825851 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137881704C>T , CM000668.2:g.137881704C>T | GRCh38 |
| NC_000006.11:g.138202841C>T , CM000668.1:g.138202841C>T | GRCh37 |
| NC_000006.10:g.138244534C>T | NCBI36 |
| NG_032761.1:g.19261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420009.6:c.*385C>T | ENSP00000401562.2:n.*385C>T | |
| ENST00000711061.1:c.*2481C>T | ENSP00000518561.1:n.*2481C>T | |
| ENST00000421450.2:c.*385C>T | ENSP00000393577.2:n.*385C>T | |
| ENST00000433680.2:c.*385C>T | ENSP00000409845.2:n.*385C>T | |
| ENST00000485192.2:n.3379C>T | ||
| ENST00000698329.1:n.3826C>T | ||
| ENST00000612899.5:c.*385C>T MANE Select | ENSP00000481570.1:n.*385C>T | |
| ENST00000237289.8:c.*385C>T | ENSP00000237289.4:n.*385C>T | |
| ENST00000612899.4:c.*385C>T | ENSP00000481570.1:n.*385C>T | |
| ENST00000615468.4:c.*2112C>T | ENSP00000479556.1:n.*2112C>T | |
| ENST00000620204.3:c.*746C>T | ENSP00000481454.1:n.*746C>T | |
| NM_001270507.1:c.*385C>T | NP_001257436.1:n.*385C>T | |
| NM_001270508.1:c.*385C>T | NP_001257437.1:n.*385C>T | |
| NM_006290.3:c.*385C>T | NP_006281.1:n.*385C>T | |
| XM_005267119.1:c.*385C>T | XP_005267176.1:n.*385C>T | |
| XM_006715555.1:c.*385C>T | XP_006715618.1:n.*385C>T | |
| XM_011536095.1:c.*385C>T | XP_011534397.1:n.*385C>T | |
| XM_011536096.1:c.*506C>T | XP_011534398.1:n.*506C>T | |
| XM_011536096.2:c.*506C>T | XP_011534398.1:n.*506C>T | |
| XM_024446532.1:c.*385C>T | XP_024302300.1:n.*385C>T | |
| XM_024446533.1:c.*385C>T | XP_024302301.1:n.*385C>T | |
| NM_001270508.2:c.*385C>T MANE Select | NP_001257437.1:n.*385C>T | |
| NM_001270507.2:c.*385C>T | NP_001257436.1:n.*385C>T | |
| NM_006290.4:c.*385C>T | NP_006281.1:n.*385C>T |