gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00292662 (EAS)
Genomes Max Group AF
0.00015702 (EAS)
Exomes Max Group AF
0.00323766 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323863G>A , CM000677.2:g.89323863G>A | GRCh38 |
| NC_000015.9:g.89867094G>A , CM000677.1:g.89867094G>A | GRCh37 |
| NC_000015.8:g.87668098G>A | NCBI36 |
| NG_008218.1:g.15933C>T | |
| NG_008218.2:g.15933C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2109C>T | ENSP00000516154.1:p.Ala703= | |
| ENST00000268124.11:c.2109C>T MANE Select | ENSP00000268124.5:p.Ala703= | |
| ENST00000530292.3:c.1710C>T | ENSP00000432885.2:p.Ala570= | |
| ENST00000635986.2:c.2109C>T | ENSP00000490653.2:p.Ala703= | |
| ENST00000636774.1:c.*676C>T | ENSP00000489799.1:n.*676C>T | |
| ENST00000637238.1:c.806C>T | ENSP00000490756.1:n.806C>T | |
| ENST00000637264.1:c.1181C>T | ||
| ENST00000666746.1:c.1686C>T | ||
| ENST00000670281.1:c.429C>T | ENSP00000499709.1:p.Ala143= | |
| ENST00000672071.1:n.2307C>T | ||
| ENST00000672923.2:n.2212C>T | ||
| ENST00000268124.9:c.2109C>T | ENSP00000268124.5:p.Ala703= | |
| ENST00000442287.6:c.2109C>T | ENSP00000399851.2:p.Ala703= | |
| ENST00000526314.2:c.491C>T | ||
| ENST00000526398.1:c.258C>T | ||
| ENST00000526573.1:n.195C>T | ||
| ENST00000532584.5:n.311C>T | ||
| ENST00000533857.1:n.224C>T | ||
| ENST00000631044.2:c.*1492C>T | ENSP00000486730.1:n.*1492C>T | |
| NM_001126131.1:c.2109C>T | NP_001119603.1:p.Ala703= | |
| NM_002693.2:c.2109C>T | NP_002684.1:p.Ala703= | |
| NM_001126131.2:c.2109C>T | NP_001119603.1:p.Ala703= | |
| NM_002693.3:c.2109C>T MANE Select | NP_002684.1:p.Ala703= |