gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00179184 (SAS)
Genomes Max Group AF
0.0006799 (SAS)
Exomes Max Group AF
0.00181569 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21568952G>A , CM000674.2:g.21568952G>A | GRCh38 |
| NC_000012.11:g.21721886G>A , CM000674.1:g.21721886G>A | GRCh37 |
| NC_000012.10:g.21613153G>A | NCBI36 |
| NG_016167.1:g.40896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.736C>T MANE Select | ENSP00000261195.2:p.Arg246Ter | |
| ENST00000647960.1:c.*738C>T | ENSP00000497202.1:n.*738C>T | |
| ENST00000648372.1:n.663C>T | ||
| ENST00000261195.2:c.736C>T | ENSP00000261195.2:p.Arg246Ter | |
| NM_021957.3:c.736C>T | NP_068776.2:p.Arg246Ter | |
| XM_005253352.1:c.736C>T | XP_005253409.1:p.Arg246Ter | |
| XM_005253354.2:c.517C>T | XP_005253411.1:p.Arg173Ter | |
| XM_006719062.2:c.736C>T | XP_006719125.1:p.Arg246Ter | |
| XM_006719063.2:c.505C>T | XP_006719126.1:p.Arg169Ter | |
| NM_021957.4:c.736C>T MANE Select | NP_068776.2:p.Arg246Ter | |
| XM_006719063.3:c.505C>T | XP_006719126.1:p.Arg169Ter | |
| XM_017019245.2:c.736C>T | XP_016874734.1:p.Arg246Ter | |
| XM_024448960.1:c.736C>T | XP_024304728.1:p.Arg246Ter |