gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00008445 (SAS)
Exomes Max Group AF
0.00008887 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768445G>T , CM000663.2:g.115768445G>T | GRCh38 |
| NC_000001.10:g.116311066G>T , CM000663.1:g.116311066G>T | GRCh37 |
| NC_000001.9:g.116112589G>T | NCBI36 |
| NG_008802.1:g.5361C>A , LRG_404:g.5361C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-180C>A | ENSP00000518226.1:n.-180C>A | |
| ENST00000261448.6:c.97C>A MANE Select | ENSP00000261448.5:p.Arg33= | |
| ENST00000261448.5:c.97C>A | ENSP00000261448.5:p.Arg33= | |
| NM_001232.3:c.97C>A , LRG_404t1:c.97C>A | NP_001223.2:p.Arg33= | |
| NM_001232.4:c.97C>A MANE Select | NP_001223.2:p.Arg33= |