Revel Score:
ENST00000155840 (MANE Select)
0.965
ENST00000335475
0.965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583463A>C , CM000673.2:g.2583463A>C | GRCh38 |
| NC_000011.9:g.2604693A>C , CM000673.1:g.2604693A>C | GRCh37 |
| NC_000011.8:g.2561269A>C | NCBI36 |
| NG_008935.1:g.143473A>C , LRG_287:g.143473A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.689A>C | ENSP00000434560.2:p.Asp230Ala | |
| ENST00000646564.2:c.506A>C | ENSP00000495806.2:p.Asp169Ala | |
| ENST00000155840.12:c.950A>C MANE Select | ENSP00000155840.2:p.Asp317Ala | |
| ENST00000335475.6:c.569A>C | ENSP00000334497.5:p.Asp190Ala | |
| ENST00000646564.1:c.152A>C | ENSP00000495806.1:p.Asp51Ala | |
| ENST00000155840.9:c.950A>C | ENSP00000155840.2:p.Asp317Ala | |
| ENST00000335475.5:c.569A>C | ENSP00000334497.5:p.Asp190Ala | |
| NM_000218.2:c.950A>C , LRG_287t1:c.950A>C | NP_000209.2:p.Asp317Ala | |
| NM_181798.1:c.569A>C , LRG_287t2:c.569A>C | NP_861463.1:p.Asp190Ala | |
| NM_000218.3:c.950A>C MANE Select | NP_000209.2:p.Asp317Ala |