Revel Score:
ENST00000155840 (MANE Select)
0.977
ENST00000335475
0.977
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583463A>G , CM000673.2:g.2583463A>G | GRCh38 |
| NC_000011.9:g.2604693A>G , CM000673.1:g.2604693A>G | GRCh37 |
| NC_000011.8:g.2561269A>G | NCBI36 |
| NG_008935.1:g.143473A>G , LRG_287:g.143473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.689A>G | ENSP00000434560.2:p.Asp230Gly | |
| ENST00000646564.2:c.506A>G | ENSP00000495806.2:p.Asp169Gly | |
| ENST00000155840.12:c.950A>G MANE Select | ENSP00000155840.2:p.Asp317Gly | |
| ENST00000335475.6:c.569A>G | ENSP00000334497.5:p.Asp190Gly | |
| ENST00000646564.1:c.152A>G | ENSP00000495806.1:p.Asp51Gly | |
| ENST00000155840.9:c.950A>G | ENSP00000155840.2:p.Asp317Gly | |
| ENST00000335475.5:c.569A>G | ENSP00000334497.5:p.Asp190Gly | |
| NM_000218.2:c.950A>G , LRG_287t1:c.950A>G | NP_000209.2:p.Asp317Gly | |
| NM_181798.1:c.569A>G , LRG_287t2:c.569A>G | NP_861463.1:p.Asp190Gly | |
| NM_000218.3:c.950A>G MANE Select | NP_000209.2:p.Asp317Gly |