Revel Score:
ENST00000361301
0.181
ENST00000222462 (MANE Select)
0.181
ENST00000414945
0.181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.121329715G>C , CM000669.2:g.121329715G>C | GRCh38 |
| NC_000007.13:g.120969769G>C , CM000669.1:g.120969769G>C | GRCh37 |
| NC_000007.12:g.120757005G>C | NCBI36 |
| NG_029242.1:g.9349G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222462.3:c.244G>C MANE Select | ENSP00000222462.2:p.Gly82Arg | |
| ENST00000222462.2:c.244G>C | ENSP00000222462.2:p.Gly82Arg | |
| ENST00000361301.6:c.214G>C | ENSP00000355065.2:p.Gly72Arg | |
| NM_016087.2:c.214G>C | NP_057171.2:p.Gly72Arg | |
| NM_057168.1:c.244G>C | NP_476509.1:p.Gly82Arg | |
| NM_057168.2:c.244G>C MANE Select | NP_476509.1:p.Gly82Arg |