Revel Score:
ENST00000268124 (MANE Select)
0.299
ENST00000442287
0.299
ENST00000526314
0.299
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010232 (AFR)
Genomes Max Group AF
0.00011235 (AFR)
Exomes Max Group AF
0.00003982 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89324126T>C , CM000677.2:g.89324126T>C | GRCh38 |
| NC_000015.9:g.89867357T>C , CM000677.1:g.89867357T>C | GRCh37 |
| NC_000015.8:g.87668361T>C | NCBI36 |
| NG_008218.1:g.15670A>G | |
| NG_008218.2:g.15670A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2051A>G | ENSP00000516154.1:p.Asn684Ser | |
| ENST00000268124.11:c.2051A>G MANE Select | ENSP00000268124.5:p.Asn684Ser | |
| ENST00000530292.3:c.1652A>G | ENSP00000432885.2:p.Asn551Ser | |
| ENST00000635986.2:c.2051A>G | ENSP00000490653.2:p.Asn684Ser | |
| ENST00000636774.1:c.*618A>G | ENSP00000489799.1:n.*618A>G | |
| ENST00000637238.1:c.748A>G | ENSP00000490756.1:n.748A>G | |
| ENST00000637264.1:c.1123A>G | ||
| ENST00000666746.1:c.1628A>G | ||
| ENST00000670281.1:c.371A>G | ENSP00000499709.1:p.Asn124Ser | |
| ENST00000672071.1:n.2249A>G | ||
| ENST00000672923.2:n.2154A>G | ||
| ENST00000268124.9:c.2051A>G | ENSP00000268124.5:p.Asn684Ser | |
| ENST00000442287.6:c.2051A>G | ENSP00000399851.2:p.Asn684Ser | |
| ENST00000526314.2:c.433A>G | ||
| ENST00000526398.1:c.200A>G | ||
| ENST00000526573.1:n.137A>G | ||
| ENST00000532584.5:n.253A>G | ||
| ENST00000533857.1:n.166A>G | ||
| ENST00000631044.2:c.*1434A>G | ENSP00000486730.1:n.*1434A>G | |
| NM_001126131.1:c.2051A>G | NP_001119603.1:p.Asn684Ser | |
| NM_002693.2:c.2051A>G | NP_002684.1:p.Asn684Ser | |
| NM_001126131.2:c.2051A>G | NP_001119603.1:p.Asn684Ser | |
| NM_002693.3:c.2051A>G MANE Select | NP_002684.1:p.Asn684Ser |