gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00257489 (EAS)
Genomes Max Group AF
0.00240821 (EAS)
Exomes Max Group AF
0.00246642 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321793G>A , CM000677.2:g.89321793G>A | GRCh38 |
| NC_000015.9:g.89865024G>A , CM000677.1:g.89865024G>A | GRCh37 |
| NC_000015.8:g.87666028G>A | NCBI36 |
| NG_008218.1:g.18003C>T | |
| NG_008218.2:g.18003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2541C>T | ENSP00000516154.1:p.Ala847= | |
| ENST00000268124.11:c.2541C>T MANE Select | ENSP00000268124.5:p.Ala847= | |
| ENST00000530292.3:c.2142C>T | ENSP00000432885.2:p.Ala714= | |
| ENST00000635986.2:c.2541C>T | ENSP00000490653.2:p.Ala847= | |
| ENST00000636774.1:c.*1108C>T | ENSP00000489799.1:n.*1108C>T | |
| ENST00000637238.1:c.1238C>T | ENSP00000490756.1:n.1238C>T | |
| ENST00000637264.1:c.1613C>T | ||
| ENST00000666746.1:c.2118C>T | ||
| ENST00000670281.1:c.800+169C>T | ENSP00000499709.1:n.800+169C>T | |
| ENST00000672071.1:n.2739C>T | ||
| ENST00000672923.2:n.2483C>T | ||
| ENST00000268124.9:c.2541C>T | ENSP00000268124.5:p.Ala847= | |
| ENST00000442287.6:c.2541C>T | ENSP00000399851.2:p.Ala847= | |
| ENST00000528881.2:c.196-533C>T | ||
| ENST00000530715.5:c.186-924C>T | ENSP00000431395.1:n.186-924C>T | |
| ENST00000532584.5:n.690C>T | ||
| ENST00000631044.2:c.*1965C>T | ENSP00000486730.1:n.*1965C>T | |
| NM_001126131.1:c.2541C>T | NP_001119603.1:p.Ala847= | |
| NM_002693.2:c.2541C>T | NP_002684.1:p.Ala847= | |
| NM_001126131.2:c.2541C>T | NP_001119603.1:p.Ala847= | |
| NM_002693.3:c.2541C>T MANE Select | NP_002684.1:p.Ala847= |