gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003069 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00002999 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99851058C>T , CM000663.2:g.99851058C>T | GRCh38 |
| NC_000001.10:g.100316614C>T , CM000663.1:g.100316614C>T | GRCh37 |
| NC_000001.9:g.100089202C>T | NCBI36 |
| NG_012865.1:g.5975C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.16C>T MANE Select | ENSP00000355106.3:p.Gln6Ter | |
| ENST00000294724.8:c.16C>T | ENSP00000294724.4:p.Gln6Ter | |
| ENST00000361302.7:c.-176C>T | ENSP00000354971.3:n.-176C>T | |
| ENST00000361915.7:c.16C>T | ENSP00000355106.3:p.Gln6Ter | |
| ENST00000370163.7:c.16C>T | ENSP00000359182.3:p.Gln6Ter | |
| ENST00000370165.7:c.16C>T | ENSP00000359184.3:p.Gln6Ter | |
| NM_000028.2:c.16C>T | NP_000019.2:p.Gln6Ter | |
| NM_000642.2:c.16C>T | NP_000633.2:p.Gln6Ter | |
| NM_000643.2:c.16C>T | NP_000634.2:p.Gln6Ter | |
| NM_000644.2:c.16C>T | NP_000635.2:p.Gln6Ter | |
| NM_000646.2:c.-176C>T | NP_000637.2:n.-176C>T | |
| XM_005270557.1:c.16C>T | XP_005270614.1:p.Gln6Ter | |
| XM_005270557.2:c.16C>T | XP_005270614.1:p.Gln6Ter | |
| NM_000642.3:c.16C>T MANE Select | NP_000633.2:p.Gln6Ter |