gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45915714G>A , CM000673.2:g.45915714G>A | GRCh38 |
| NC_000011.9:g.45937265G>A , CM000673.1:g.45937265G>A | GRCh37 |
| NC_000011.8:g.45893841G>A | NCBI36 |
| NG_008460.1:g.7410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.348C>T MANE Select | ENSP00000368024.5:p.Val116= | |
| ENST00000241041.7:c.348C>T | ENSP00000241041.3:p.Val116= | |
| ENST00000378750.9:c.348C>T | ENSP00000368024.5:p.Val116= | |
| ENST00000525192.5:c.63C>T | ENSP00000431309.1:p.Val21= | |
| ENST00000525229.5:c.*301C>T | ENSP00000431132.1:n.*301C>T | |
| ENST00000528674.5:c.*247C>T | ENSP00000434060.1:n.*247C>T | |
| ENST00000529030.1:c.*333C>T | ENSP00000432486.1:n.*333C>T | |
| ENST00000532554.5:n.131-146C>T | ||
| ENST00000532681.5:c.63C>T | ENSP00000434654.1:p.Val21= | |
| ENST00000533151.5:c.149-1030C>T | ENSP00000433045.1:n.149-1030C>T | |
| NM_004813.2:c.348C>T | NP_004804.1:p.Ile116= | |
| NM_057174.2:c.348C>T | NP_476515.1:p.Ile116= | |
| XM_011520474.1:c.225C>T | XP_011518776.1:p.Val75= | |
| NM_004813.3:c.348C>T | NP_004804.1:p.Ile116= | |
| NM_004813.4:c.348C>T MANE Select | NP_004804.2:p.Val116= | |
| NM_057174.3:c.348C>T | NP_476515.2:p.Val116= |