gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45913927 (EAS)
Genomes Max Group AF
0.45930591 (EAS)
Exomes Max Group AF
0.00786234 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12833208C>T , CM000672.2:g.12833208C>T | GRCh38 |
| NC_000010.10:g.12875208C>T , CM000672.1:g.12875208C>T | GRCh37 |
| NC_000010.9:g.12915214C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619168.5:c.*4321C>T MANE Select | ENSP00000478874.1:n.*4321C>T | |
| ENST00000619168.4:c.*4321C>T | ENSP00000478874.1:n.*4321C>T | |
| NM_153498.3:c.*4321C>T | NP_705718.1:n.*4321C>T | |
| XM_006717481.2:c.*4321C>T | XP_006717544.1:n.*4321C>T | |
| XM_006717482.2:c.*4347C>T | XP_006717545.1:n.*4347C>T | |
| XM_006717483.2:c.*4415C>T | XP_006717546.1:n.*4415C>T | |
| XM_011519591.1:c.*4321C>T | XP_011517893.1:n.*4321C>T | |
| XM_011519592.1:c.*4321C>T | XP_011517894.1:n.*4321C>T | |
| XM_011519593.1:c.*4321C>T | XP_011517895.1:n.*4321C>T | |
| XM_011519594.1:c.*4321C>T | XP_011517896.1:n.*4321C>T | |
| XM_011519595.1:c.*4321C>T | XP_011517897.1:n.*4321C>T | |
| XM_011519596.1:c.*4321C>T | XP_011517898.1:n.*4321C>T | |
| XM_006717482.3:c.*4347C>T | XP_006717545.1:n.*4347C>T | |
| NM_153498.4:c.*4321C>T MANE Select | NP_705718.1:n.*4321C>T |