gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000576 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46729528C>A , CM000673.2:g.46729528C>A | GRCh38 |
| NC_000011.9:g.46751078C>A , CM000673.1:g.46751078C>A | GRCh37 |
| NC_000011.8:g.46707654C>A | NCBI36 |
| NG_008953.1:g.15336C>A , LRG_551:g.15336C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.1621C>A MANE Select | ENSP00000308541.5:p.Arg541= | |
| ENST00000311907.9:c.1621C>A | ENSP00000308541.5:p.Arg541= | |
| ENST00000530231.5:c.1504C>A | ENSP00000433907.1:p.Arg502= | |
| NM_000506.3:c.1621C>A | NP_000497.1:p.Arg541= | |
| NM_000506.4:c.1621C>A , LRG_551t1:c.1621C>A | NP_000497.1:p.Arg541= | |
| NM_001311257.1:c.1573C>A | NP_001298186.1:p.Arg525= | |
| XR_428840.2:n.1516+691C>A | ||
| XR_428840.4:n.1507+691C>A | ||
| NM_000506.5:c.1621C>A MANE Select | NP_000497.1:p.Arg541= | |
| NM_001311257.2:c.1573C>A | NP_001298186.1:p.Arg525= |