Revel Score:
ENST00000340722 (MANE Select)
0.046
ENST00000538038
0.046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95690850G>C , CM000676.2:g.95690850G>C | GRCh38 |
| NC_000014.8:g.96157187G>C , CM000676.1:g.96157187G>C | GRCh37 |
| NC_000014.7:g.95226940G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340722.8:c.277G>C MANE Select | ENSP00000343223.6:p.Gly93Arg | |
| ENST00000340722.7:c.277G>C | ENSP00000343223.6:p.Gly93Arg | |
| ENST00000464815.5:n.307G>C | ||
| ENST00000556665.1:n.237G>C | ||
| NM_004918.3:c.277G>C | NP_004909.1:p.Gly93Arg | |
| NM_004918.4:c.277G>C MANE Select | NP_004909.1:p.Gly93Arg |