gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000347 (AFR)
Genomes Max Group AF
0.00003248 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947663T>C , CM000678.2:g.13947663T>C | GRCh38 |
| NC_000016.9:g.14041520T>C , CM000678.1:g.14041520T>C | GRCh37 |
| NC_000016.8:g.13949021T>C | NCBI36 |
| NG_011442.1:g.32507T>C , LRG_463:g.32507T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2205T>C | ENSP00000507912.1:p.Arg735= | |
| ENST00000683962.1:c.*1761T>C | ENSP00000506854.1:n.*1761T>C | |
| ENST00000311895.8:c.2067T>C MANE Select | ENSP00000310520.7:p.Arg689= | |
| ENST00000311895.7:c.2067T>C | ENSP00000310520.7:p.Arg689= | |
| ENST00000389138.7:n.1344T>C | ||
| ENST00000462862.1:c.380T>C | ENSP00000461322.1:n.380T>C | |
| NM_005236.2:c.2067T>C , LRG_463t1:c.2067T>C | NP_005227.1:p.Arg689= | |
| XM_011522424.1:c.2205T>C | XP_011520726.1:p.Arg735= | |
| XM_011522425.1:c.1524T>C | XP_011520727.1:p.Arg508= | |
| XM_011522426.1:c.1278T>C | XP_011520728.1:p.Arg426= | |
| XM_011522427.1:c.717T>C | XP_011520729.1:p.Arg239= | |
| XR_932805.1:n.2226T>C | ||
| XM_011522424.3:c.2205T>C | XP_011520726.1:p.Arg735= | |
| XM_017023043.2:c.1278T>C | XP_016878532.1:p.Arg426= | |
| NM_005236.3:c.2067T>C MANE Select | NP_005227.1:p.Arg689= |