Revel Score:
ENST00000356315
0.525
ENST00000358136
0.525
ENST00000011700
0.352
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12368581A>G , CM000663.2:g.12368581A>G | GRCh38 |
| NC_000001.10:g.12428636A>G , CM000663.1:g.12428636A>G | GRCh37 |
| NC_000001.9:g.12351223A>G | NCBI36 |
| NG_056877.1:g.143543A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620676.6:c.10562A>G MANE Select | ENSP00000478104.1:p.Asn3521Ser | |
| ENST00000646411.1:n.595A>G | ||
| ENST00000646917.1:c.5084A>G | ||
| ENST00000011700.10:c.7027A>G | ||
| ENST00000460333.5:n.4565A>G | ||
| ENST00000543710.5:n.146A>G | ||
| ENST00000613099.4:c.10487A>G | ENSP00000482233.1:p.Asn3496Ser | |
| ENST00000620676.4:c.10562A>G | ENSP00000478104.1:p.Asn3521Ser | |
| NM_015378.3:c.10562A>G | NP_056193.2:p.Asn3521Ser | |
| NM_018156.3:c.10487A>G | NP_060626.2:p.Asn3496Ser | |
| NM_015378.4:c.10562A>G MANE Select | NP_056193.2:p.Asn3521Ser | |
| NM_018156.4:c.10487A>G | NP_060626.2:p.Asn3496Ser |