gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0006381 (AFR)
Genomes Max Group AF
0.00054161 (AFR)
Exomes Max Group AF
0.00061974 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323823G>A , CM000677.2:g.89323823G>A | GRCh38 |
| NC_000015.9:g.89867054G>A , CM000677.1:g.89867054G>A | GRCh37 |
| NC_000015.8:g.87668058G>A | NCBI36 |
| NG_008218.1:g.15973C>T | |
| NG_008218.2:g.15973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2149C>T | ENSP00000516154.1:p.Leu717= | |
| ENST00000268124.11:c.2149C>T MANE Select | ENSP00000268124.5:p.Leu717= | |
| ENST00000530292.3:c.1750C>T | ENSP00000432885.2:p.Leu584= | |
| ENST00000635986.2:c.2149C>T | ENSP00000490653.2:p.Leu717= | |
| ENST00000636774.1:c.*716C>T | ENSP00000489799.1:n.*716C>T | |
| ENST00000637238.1:c.846C>T | ENSP00000490756.1:n.846C>T | |
| ENST00000637264.1:c.1221C>T | ||
| ENST00000666746.1:c.1726C>T | ||
| ENST00000670281.1:c.469C>T | ENSP00000499709.1:p.Leu157= | |
| ENST00000672071.1:n.2347C>T | ||
| ENST00000672923.2:n.2252C>T | ||
| ENST00000268124.9:c.2149C>T | ENSP00000268124.5:p.Leu717= | |
| ENST00000442287.6:c.2149C>T | ENSP00000399851.2:p.Leu717= | |
| ENST00000526314.2:c.531C>T | ||
| ENST00000526398.1:c.298C>T | ||
| ENST00000526573.1:n.235C>T | ||
| ENST00000532584.5:n.351C>T | ||
| ENST00000533857.1:n.264C>T | ||
| ENST00000631044.2:c.*1532C>T | ENSP00000486730.1:n.*1532C>T | |
| NM_001126131.1:c.2149C>T | NP_001119603.1:p.Leu717= | |
| NM_002693.2:c.2149C>T | NP_002684.1:p.Leu717= | |
| NM_001126131.2:c.2149C>T | NP_001119603.1:p.Leu717= | |
| NM_002693.3:c.2149C>T MANE Select | NP_002684.1:p.Leu717= |