gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002551 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101771097G>A , CM000674.2:g.101771097G>A | GRCh38 |
| NC_000012.11:g.102164875G>A , CM000674.1:g.102164875G>A | GRCh37 |
| NC_000012.10:g.100689006G>A | NCBI36 |
| NG_021243.1:g.64771C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.832C>T MANE Select | ENSP00000299314.7:p.Gln278Ter | |
| ENST00000299314.11:c.832C>T | ENSP00000299314.7:p.Gln278Ter | |
| ENST00000549940.5:c.832C>T | ENSP00000449150.1:p.Gln278Ter | |
| NM_024312.4:c.832C>T | NP_077288.2:p.Gln278Ter | |
| XM_006719593.2:c.832C>T | XP_006719656.1:p.Gln278Ter | |
| XM_011538731.1:c.751C>T | XP_011537033.1:p.Gln251Ter | |
| XM_006719593.3:c.832C>T | XP_006719656.1:p.Gln278Ter | |
| XM_011538731.2:c.751C>T | XP_011537033.1:p.Gln251Ter | |
| XM_017019961.1:c.616C>T | XP_016875450.1:p.Gln206Ter | |
| XM_017019962.2:c.-519C>T | XP_016875451.1:n.-519C>T | |
| NM_024312.5:c.832C>T MANE Select | NP_077288.2:p.Gln278Ter |