Revel Score:
ENST00000526117
0.870
ENST00000373474 (MANE Select)
0.870
ENST00000355497
0.870
ENST00000425646
0.870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126693527C>G , CM000671.2:g.126693527C>G | GRCh38 |
| NC_000009.11:g.129455806C>G , CM000671.1:g.129455806C>G | GRCh37 |
| NC_000009.10:g.128495627C>G | NCBI36 |
| NG_017039.1:g.84085C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355497.10:c.745C>G | ENSP00000347684.5:p.Arg249Gly | |
| ENST00000373474.9:c.745C>G MANE Select | ENSP00000362573.3:p.Arg249Gly | |
| ENST00000526117.6:c.745C>G | ENSP00000436930.1:p.Arg249Gly | |
| ENST00000355497.9:c.745C>G | ENSP00000347684.5:p.Arg249Gly | |
| ENST00000373474.8:c.745C>G | ENSP00000362573.3:p.Arg249Gly | |
| ENST00000526117.5:c.745C>G | ENSP00000436930.1:p.Arg249Gly | |
| ENST00000561065.1:c.676C>G | ENSP00000453580.1:p.Arg226Gly | |
| NM_001174146.1:c.745C>G | NP_001167617.1:p.Arg249Gly | |
| NM_001174147.1:c.745C>G | NP_001167618.1:p.Arg249Gly | |
| NM_002316.3:c.745C>G | NP_002307.2:p.Arg249Gly | |
| NM_001174146.2:c.745C>G | NP_001167617.1:p.Arg249Gly | |
| NM_001174147.2:c.745C>G MANE Select | NP_001167618.1:p.Arg249Gly | |
| NM_002316.4:c.745C>G | NP_002307.2:p.Arg249Gly |