Revel Score:
ENST00000268124 (MANE Select)
0.849
ENST00000442287
0.849
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328795T>C , CM000677.2:g.89328795T>C | GRCh38 |
| NC_000015.9:g.89872026T>C , CM000677.1:g.89872026T>C | GRCh37 |
| NC_000015.8:g.87673030T>C | NCBI36 |
| NG_008218.1:g.11001A>G | |
| NG_008218.2:g.11001A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1060A>G | ENSP00000516154.1:p.Asn354Asp | |
| ENST00000268124.11:c.1060A>G MANE Select | ENSP00000268124.5:p.Asn354Asp | |
| ENST00000530292.3:c.661A>G | ENSP00000432885.2:p.Asn221Asp | |
| ENST00000635986.2:c.1060A>G | ENSP00000490653.2:p.Asn354Asp | |
| ENST00000636774.1:c.1060A>G | ENSP00000489799.1:p.Asn354Asp | |
| ENST00000637264.1:c.132A>G | ||
| ENST00000666746.1:c.717A>G | ||
| ENST00000672071.1:n.1258A>G | ||
| ENST00000672923.2:n.57A>G | ||
| ENST00000268124.9:c.1060A>G | ENSP00000268124.5:p.Asn354Asp | |
| ENST00000442287.6:c.1060A>G | ENSP00000399851.2:p.Asn354Asp | |
| ENST00000631044.2:c.*443A>G | ENSP00000486730.1:n.*443A>G | |
| NM_001126131.1:c.1060A>G | NP_001119603.1:p.Asn354Asp | |
| NM_002693.2:c.1060A>G | NP_002684.1:p.Asn354Asp | |
| NM_001126131.2:c.1060A>G | NP_001119603.1:p.Asn354Asp | |
| NM_002693.3:c.1060A>G MANE Select | NP_002684.1:p.Asn354Asp |