Revel Score:
ENST00000328333
0.966
ENST00000454817
0.966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48567190C>T , CM000665.2:g.48567190C>T | GRCh38 |
| NC_000003.11:g.48604623C>T , CM000665.1:g.48604623C>T | GRCh37 |
| NC_000003.10:g.48579627C>T | NCBI36 |
| NG_007065.1:g.33063G>A , LRG_286:g.33063G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.8047G>A MANE Select | ENSP00000506558.1:p.Gly2683Ser | |
| ENST00000328333.12:c.8047G>A | ENSP00000332371.8:p.Gly2683Ser | |
| ENST00000474432.1:n.174G>A | ||
| ENST00000487017.5:n.4686G>A | ||
| NM_000094.3:c.8047G>A , LRG_286t1:c.8047G>A | NP_000085.1:p.Gly2683Ser | |
| XM_011533336.1:c.8074G>A | XP_011531638.1:p.Gly2692Ser | |
| XM_011533337.1:c.8047G>A | XP_011531639.1:p.Gly2683Ser | |
| XM_011533338.1:c.8014G>A | XP_011531640.1:p.Gly2672Ser | |
| XR_940369.1:n.8110G>A | ||
| XR_940370.1:n.8110G>A | ||
| XR_940371.1:n.8110G>A | ||
| XM_017005688.1:c.7987G>A | XP_016861177.1:p.Gly2663Ser | |
| XR_001740003.1:n.8083G>A | ||
| XR_001740004.1:n.8083G>A | ||
| XR_001740005.1:n.8083G>A | ||
| NM_000094.4:c.8047G>A MANE Select | NP_000085.1:p.Gly2683Ser |