gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00129647 (NFE)
Genomes Max Group AF
0.00090182 (NFE)
Exomes Max Group AF
0.00130928 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22209593C>T , CM000670.2:g.22209593C>T | GRCh38 |
| NC_000008.10:g.22067106C>T , CM000670.1:g.22067106C>T | GRCh37 |
| NC_000008.9:g.22123051C>T | NCBI36 |
| NG_029659.1:g.49454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306385.10:c.2724C>T MANE Select | ENSP00000305714.5:p.Thr908= | |
| ENST00000520626.6:c.*3256C>T | ENSP00000430015.2:n.*3256C>T | |
| ENST00000306385.9:c.2724C>T | ENSP00000305714.5:p.Thr908= | |
| ENST00000354870.5:c.*1981C>T | ENSP00000346941.5:n.*1981C>T | |
| ENST00000520626.5:c.*3256C>T | ENSP00000430015.1:n.*3256C>T | |
| ENST00000520970.5:c.*1088C>T | ENSP00000428332.1:n.*1088C>T | |
| ENST00000520982.5:c.*2191C>T | ENSP00000428798.1:n.*2191C>T | |
| NM_006129.4:c.2724C>T | NP_006120.1:p.Thr908= | |
| NR_033403.1:n.3027C>T | ||
| XR_949458.1:n.3097C>T | ||
| XR_001745579.2:n.3617C>T | ||
| XR_949458.2:n.3039C>T | ||
| NM_006129.5:c.2724C>T MANE Select | NP_006120.1:p.Thr908= | |
| NR_033403.2:n.2795C>T |