gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015354 (AMR)
Exomes Max Group AF
0.00018884 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22207371G>T , CM000670.2:g.22207371G>T | GRCh38 |
| NC_000008.10:g.22064884G>T , CM000670.1:g.22064884G>T | GRCh37 |
| NC_000008.9:g.22120829G>T | NCBI36 |
| NG_029659.1:g.47232G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306385.10:c.2430G>T MANE Select | ENSP00000305714.5:p.Gly810= | |
| ENST00000520626.6:c.*2962G>T | ENSP00000430015.2:n.*2962G>T | |
| ENST00000306385.9:c.2430G>T | ENSP00000305714.5:p.Gly810= | |
| ENST00000354870.5:c.*1687G>T | ENSP00000346941.5:n.*1687G>T | |
| ENST00000520626.5:c.*2962G>T | ENSP00000430015.1:n.*2962G>T | |
| ENST00000520970.5:c.*794G>T | ENSP00000428332.1:n.*794G>T | |
| ENST00000520982.5:c.*1897G>T | ENSP00000428798.1:n.*1897G>T | |
| NM_006129.4:c.2430G>T | NP_006120.1:p.Gly810= | |
| NR_033403.1:n.2733G>T | ||
| XR_949458.1:n.2803G>T | ||
| XR_001745579.2:n.3323G>T | ||
| XR_949458.2:n.2745G>T | ||
| NM_006129.5:c.2430G>T MANE Select | NP_006120.1:p.Gly810= | |
| NR_033403.2:n.2501G>T |