gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725905C>T , CM000673.2:g.46725905C>T | GRCh38 |
| NC_000011.9:g.46747455C>T , CM000673.1:g.46747455C>T | GRCh37 |
| NC_000011.8:g.46704031C>T | NCBI36 |
| NG_008953.1:g.11713C>T , LRG_551:g.11713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.606C>T MANE Select | ENSP00000308541.5:p.Ser202= | |
| ENST00000311907.9:c.606C>T | ENSP00000308541.5:p.Ser202= | |
| ENST00000442468.1:c.576C>T | ENSP00000387413.1:p.Ser192= | |
| ENST00000490274.1:n.386C>T | ||
| ENST00000530231.5:c.606C>T | ENSP00000433907.1:p.Ser202= | |
| NM_000506.3:c.606C>T | NP_000497.1:p.Ser202= | |
| NM_000506.4:c.606C>T , LRG_551t1:c.606C>T | NP_000497.1:p.Ser202= | |
| NM_001311257.1:c.558C>T | NP_001298186.1:p.Ser186= | |
| XR_428840.2:n.650C>T | ||
| XR_428840.4:n.641C>T | ||
| NM_000506.5:c.606C>T MANE Select | NP_000497.1:p.Ser202= | |
| NM_001311257.2:c.558C>T | NP_001298186.1:p.Ser186= |