Revel Score:
ENST00000303941 (MANE Select)
0.064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113397337G>C , CM000673.2:g.113397337G>C | GRCh38 |
| NC_000011.9:g.113268059G>C , CM000673.1:g.113268059G>C | GRCh37 |
| NC_000011.8:g.112773269G>C | NCBI36 |
| NG_012976.1:g.14547G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303941.4:c.952G>C MANE Select | ENSP00000306678.3:p.Gly318Arg | |
| ENST00000303941.3:c.952G>C | ENSP00000306678.3:p.Gly318Arg | |
| NM_178510.1:c.952G>C | NP_848605.1:p.Gly318Arg | |
| XM_011542736.1:c.982G>C | XP_011541038.1:p.Gly328Arg | |
| XM_011542737.1:c.952G>C | XP_011541039.1:p.Gly318Arg | |
| XM_011542738.1:c.760G>C | XP_011541040.1:p.Gly254Arg | |
| XM_011542736.2:c.982G>C | XP_011541038.1:p.Gly328Arg | |
| XM_011542737.2:c.952G>C | XP_011541039.1:p.Gly318Arg | |
| XM_011542738.2:c.760G>C | XP_011541040.1:p.Gly254Arg | |
| XM_017017475.1:c.982G>C | XP_016872964.1:p.Gly328Arg | |
| NM_178510.2:c.952G>C MANE Select | NP_848605.1:p.Gly318Arg |