gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00204986 (SAS)
Genomes Max Group AF
0.00112327 (SAS)
Exomes Max Group AF
0.00205508 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284855C>A , CM000665.2:g.122284855C>A | GRCh38 |
| NC_000003.11:g.122003702C>A , CM000665.1:g.122003702C>A | GRCh37 |
| NC_000003.10:g.123486392C>A | NCBI36 |
| NG_009058.1:g.106173C>A | |
| NG_009058.2:g.106188C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.2670C>A | ENSP00000418685.2:p.Ile890= | |
| ENST00000498619.4:c.2931C>A | ENSP00000420194.1:p.Ile977= | |
| ENST00000638421.1:c.2901C>A | ENSP00000492190.1:p.Ile967= | |
| ENST00000639785.2:c.2901C>A MANE Select | ENSP00000491584.2:p.Ile967= | |
| ENST00000490131.5:c.2901C>A | ENSP00000418685.1:p.Ile967= | |
| ENST00000498619.2:c.2931C>A | ENSP00000420194.1:p.Ile977= | |
| NM_000388.3:c.2901C>A | NP_000379.2:p.Ile967= | |
| NM_001178065.1:c.2931C>A | NP_001171536.1:p.Ile977= | |
| XM_005247836.2:c.2901C>A | XP_005247893.1:p.Ile967= | |
| XM_005247837.2:c.2418C>A | XP_005247894.1:p.Ile806= | |
| XM_006713789.2:c.2901C>A | XP_006713852.1:p.Ile967= | |
| XM_011513237.1:c.2901C>A | XP_011511539.1:p.Ile967= | |
| XM_011513238.1:c.2901C>A | XP_011511540.1:p.Ile967= | |
| XM_011513239.1:c.2313C>A | XP_011511541.1:p.Ile771= | |
| XM_006713789.3:c.2901C>A | XP_006713852.1:p.Ile967= | |
| XM_017007324.1:c.2901C>A | XP_016862813.1:p.Ile967= | |
| XM_017007325.1:c.2901C>A | XP_016862814.1:p.Ile967= | |
| NM_000388.4:c.2901C>A MANE Select | NP_000379.3:p.Ile967= | |
| NM_001178065.2:c.2931C>A | NP_001171536.2:p.Ile977= |