gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63065904C>T , CM000670.2:g.63065904C>T | GRCh38 |
| NC_000008.10:g.63978463C>T , CM000670.1:g.63978463C>T | GRCh37 |
| NC_000008.9:g.64141017C>T | NCBI36 |
| NG_016123.1:g.25150G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260116.5:c.552G>A MANE Select | ENSP00000260116.4:p.Thr184= | |
| ENST00000260116.4:c.552G>A | ENSP00000260116.4:p.Thr184= | |
| ENST00000521138.1:n.233-17301G>A | ||
| NM_000370.3:c.552G>A MANE Select | NP_000361.1:p.Thr184= | |
| XM_006716468.2:c.205-1588G>A | XP_006716531.1:n.205-1588G>A | |
| XM_006716468.4:c.205-1588G>A | XP_006716531.1:n.205-1588G>A |