gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000688 (NFE)
Exomes Max Group AF
0.00000652 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178986876G>A , CM000667.2:g.178986876G>A | GRCh38 |
| NC_000005.9:g.178413877G>A , CM000667.1:g.178413877G>A | GRCh37 |
| NC_000005.8:g.178346483G>A | NCBI36 |
| NG_008105.1:g.13248C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.1462C>T MANE Select | ENSP00000430767.1:p.Gln488Ter | |
| ENST00000650031.1:c.1462C>T | ENSP00000497110.1:p.Gln488Ter | |
| ENST00000231188.9:c.1462C>T | ENSP00000231188.5:p.Gln488Ter | |
| ENST00000517717.1:c.1462C>T | ENSP00000430767.1:p.Gln488Ter | |
| ENST00000518082.1:n.146C>T | ||
| NM_000843.3:c.1462C>T | NP_000834.2:p.Gln488Ter | |
| XR_941310.1:n.1470-2871G>A | ||
| NM_000843.4:c.1462C>T MANE Select | NP_000834.2:p.Gln488Ter |