gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948945G>T , CM000669.2:g.150948945G>T | GRCh38 |
| NC_000007.13:g.150646033G>T , CM000669.1:g.150646033G>T | GRCh37 |
| NC_000007.12:g.150276966G>T | NCBI36 |
| NG_008916.1:g.33982C>A , LRG_288:g.33982C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3336C>A | ||
| ENST00000262186.10:c.2503C>A MANE Select | ENSP00000262186.5:p.Arg835= | |
| ENST00000330883.9:c.1483C>A | ENSP00000328531.4:p.Arg495= | |
| ENST00000262186.9:c.2503C>A | ENSP00000262186.5:p.Arg835= | |
| ENST00000330883.8:c.1483C>A | ENSP00000328531.4:p.Arg495= | |
| NM_000238.3:c.2503C>A , LRG_288t1:c.2503C>A | NP_000229.1:p.Arg835= | |
| NM_172057.2:c.1483C>A , LRG_288t3:c.1483C>A | NP_742054.1:p.Arg495= | |
| XM_011516185.1:c.2203C>A | XP_011514487.1:p.Arg735= | |
| XM_011516186.1:c.2503C>A | XP_011514488.1:p.Arg835= | |
| XM_011516185.2:c.2203C>A | XP_011514487.1:p.Arg735= | |
| XM_011516186.3:c.2503C>A | XP_011514488.1:p.Arg835= | |
| XM_017012195.1:c.2353C>A | XP_016867684.1:p.Arg785= | |
| XM_017012196.1:c.2326C>A | XP_016867685.1:p.Arg776= | |
| NM_000238.4:c.2503C>A MANE Select | NP_000229.1:p.Arg835= | |
| NM_172057.3:c.1483C>A | NP_742054.1:p.Arg495= |