Revel Score:
ENST00000320580 (MANE Select)
0.679
ENST00000533756
0.679
ENST00000527380
0.679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211218G>C , CM000673.2:g.66211218G>C | GRCh38 |
| NC_000011.9:g.65978689G>C , CM000673.1:g.65978689G>C | GRCh37 |
| NC_000011.8:g.65735265G>C | NCBI36 |
| NG_033900.1:g.145866G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.619G>C MANE Select | ENSP00000316454.4:p.Gly207Arg | |
| ENST00000320580.8:c.619G>C | ENSP00000316454.4:p.Gly207Arg | |
| ENST00000527224.1:n.743G>C | ||
| ENST00000527380.1:c.325G>C | ENSP00000432639.1:p.Gly109Arg | |
| ENST00000533756.5:c.310G>C | ENSP00000437150.1:p.Gly104Arg | |
| NM_018026.3:c.619G>C | NP_060496.2:p.Gly207Arg | |
| XM_011545162.1:c.298G>C | XP_011543464.1:p.Gly100Arg | |
| XM_011545163.1:c.289G>C | XP_011543465.1:p.Gly97Arg | |
| XM_011545164.1:c.280G>C | XP_011543466.1:p.Gly94Arg | |
| XM_011545164.2:c.280G>C | XP_011543466.1:p.Gly94Arg | |
| XR_001747924.1:n.830G>C | ||
| NM_018026.4:c.619G>C MANE Select | NP_060496.2:p.Gly207Arg |