gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03193017 (AFR)
Genomes Max Group AF
0.03128788 (AFR)
Exomes Max Group AF
0.03173543 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58010689T>C , CM000677.2:g.58010689T>C | GRCh38 |
| NC_000015.9:g.58302887T>C , CM000677.1:g.58302887T>C | GRCh37 |
| NC_000015.8:g.56090179T>C | NCBI36 |
| NG_012259.1:g.60020A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249750.9:c.453A>G MANE Select | ENSP00000249750.4:p.Ala151= | |
| ENST00000249750.8:c.453A>G | ENSP00000249750.4:p.Ala151= | |
| ENST00000347587.7:c.453A>G | ENSP00000309623.3:p.Ala151= | |
| ENST00000430119.6:c.*427A>G | ENSP00000416754.2:n.*427A>G | |
| ENST00000537372.5:c.390A>G | ENSP00000438296.1:p.Ala130= | |
| ENST00000558231.5:c.366A>G | ENSP00000453600.1:p.Ala122= | |
| ENST00000559266.5:n.318+3169A>G | ||
| ENST00000559517.5:c.165A>G | ENSP00000453408.1:p.Ala55= | |
| ENST00000561070.5:c.165A>G | ENSP00000452850.1:p.Ala55= | |
| NM_001206897.1:c.390A>G | NP_001193826.1:p.Ala130= | |
| NM_003888.3:c.453A>G | NP_003879.2:p.Ala151= | |
| NM_170696.2:c.453A>G | NP_733797.1:p.Ala151= | |
| NM_170697.2:c.165A>G | NP_733798.1:p.Ala55= | |
| XM_024450095.1:c.453A>G | XP_024305863.1:p.Ala151= | |
| NM_003888.4:c.453A>G MANE Select | NP_003879.2:p.Ala151= | |
| NM_170696.3:c.453A>G | NP_733797.1:p.Ala151= | |
| NM_170697.3:c.165A>G | NP_733798.1:p.Ala55= | |
| NM_001206897.2:c.390A>G | NP_001193826.1:p.Ala130= |