gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000631 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00006322 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318982C>A , CM000677.2:g.89318982C>A | GRCh38 |
| NC_000015.9:g.89862213C>A , CM000677.1:g.89862213C>A | GRCh37 |
| NC_000015.8:g.87663217C>A | NCBI36 |
| NG_008218.1:g.20814G>T | |
| NG_011736.1:g.80020C>A , LRG_500:g.80020C>A | |
| NG_008218.2:g.20814G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3222G>T | ENSP00000516154.1:p.Val1074= | |
| ENST00000268124.11:c.3222G>T MANE Select | ENSP00000268124.5:p.Val1074= | |
| ENST00000530292.3:c.2823G>T | ENSP00000432885.2:p.Val941= | |
| ENST00000635986.2:c.*292G>T | ENSP00000490653.2:n.*292G>T | |
| ENST00000636774.1:c.*1789G>T | ENSP00000489799.1:n.*1789G>T | |
| ENST00000637238.1:c.2031G>T | ENSP00000490756.1:n.2031G>T | |
| ENST00000637264.1:c.2294G>T | ||
| ENST00000666746.1:c.2799G>T | ||
| ENST00000672071.1:n.3420G>T | ||
| ENST00000672695.1:n.399G>T | ||
| ENST00000672923.2:n.3222G>T | ||
| ENST00000268124.9:c.3222G>T | ENSP00000268124.5:p.Val1074= | |
| ENST00000442287.6:c.3222G>T | ENSP00000399851.2:p.Val1074= | |
| ENST00000530292.2:c.306G>T | ENSP00000432885.1:p.Val102= | |
| ENST00000631044.2:c.*2646G>T | ENSP00000486730.1:n.*2646G>T | |
| NM_001126131.1:c.3222G>T | NP_001119603.1:p.Val1074= | |
| NM_002693.2:c.3222G>T | NP_002684.1:p.Val1074= | |
| NM_001126131.2:c.3222G>T | NP_001119603.1:p.Val1074= | |
| NM_002693.3:c.3222G>T MANE Select | NP_002684.1:p.Val1074= |