gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001061 (AFR)
Genomes Max Group AF
0.00000797 (AFR)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89324158G>A , CM000677.2:g.89324158G>A | GRCh38 |
| NC_000015.9:g.89867389G>A , CM000677.1:g.89867389G>A | GRCh37 |
| NC_000015.8:g.87668393G>A | NCBI36 |
| NG_008218.1:g.15638C>T | |
| NG_008218.2:g.15638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2019C>T | ENSP00000516154.1:p.Ala673= | |
| ENST00000268124.11:c.2019C>T MANE Select | ENSP00000268124.5:p.Ala673= | |
| ENST00000530292.3:c.1620C>T | ENSP00000432885.2:p.Ala540= | |
| ENST00000635986.2:c.2019C>T | ENSP00000490653.2:p.Ala673= | |
| ENST00000636774.1:c.*586C>T | ENSP00000489799.1:n.*586C>T | |
| ENST00000637238.1:c.716C>T | ENSP00000490756.1:n.716C>T | |
| ENST00000637264.1:c.1091C>T | ||
| ENST00000666746.1:c.1596C>T | ||
| ENST00000670281.1:c.339C>T | ENSP00000499709.1:p.Ala113= | |
| ENST00000672071.1:n.2217C>T | ||
| ENST00000672923.2:n.2122C>T | ||
| ENST00000268124.9:c.2019C>T | ENSP00000268124.5:p.Ala673= | |
| ENST00000442287.6:c.2019C>T | ENSP00000399851.2:p.Ala673= | |
| ENST00000526314.2:c.401C>T | ||
| ENST00000526398.1:c.168C>T | ||
| ENST00000526573.1:n.105C>T | ||
| ENST00000532584.5:n.221C>T | ||
| ENST00000533857.1:n.134C>T | ||
| ENST00000631044.2:c.*1402C>T | ENSP00000486730.1:n.*1402C>T | |
| NM_001126131.1:c.2019C>T | NP_001119603.1:p.Ala673= | |
| NM_002693.2:c.2019C>T | NP_002684.1:p.Ala673= | |
| NM_001126131.2:c.2019C>T | NP_001119603.1:p.Ala673= | |
| NM_002693.3:c.2019C>T MANE Select | NP_002684.1:p.Ala673= |