Revel Score:
ENST00000269216 (MANE Select)
0.407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22171856G>C , CM000680.2:g.22171856G>C | GRCh38 |
| NC_000018.9:g.19751817G>C , CM000680.1:g.19751817G>C | GRCh37 |
| NC_000018.8:g.18005815G>C | NCBI36 |
| NG_032677.1:g.7414G>C | |
| NG_032677.2:g.7420G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269216.10:c.712G>C MANE Select | ENSP00000269216.3:p.Gly238Arg | |
| ENST00000269216.7:c.712G>C | ENSP00000269216.3:p.Gly238Arg | |
| ENST00000581694.1:c.712G>C | ENSP00000462313.1:p.Gly238Arg | |
| NM_005257.5:c.712G>C | NP_005248.2:p.Gly238Arg | |
| NM_005257.6:c.712G>C MANE Select | NP_005248.2:p.Gly238Arg |