Revel Score:
ENST00000297268 (MANE Select)
0.970
ENST00000545487
0.970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420233G>C , CM000669.2:g.94420233G>C | GRCh38 |
| NC_000007.13:g.94049545G>C , CM000669.1:g.94049545G>C | GRCh37 |
| NC_000007.12:g.93887481G>C | NCBI36 |
| NG_007405.1:g.30673G>C , LRG_2:g.30673G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2080G>C MANE Select | ENSP00000297268.6:p.Gly694Arg | |
| ENST00000297268.10:c.2080G>C | ENSP00000297268.6:p.Gly694Arg | |
| ENST00000461525.5:n.169G>C | ||
| ENST00000467931.1:n.100G>C | ||
| ENST00000473573.5:n.417G>C | ||
| ENST00000497316.5:n.477G>C | ||
| ENST00000620463.1:c.2074G>C | ENSP00000477719.1:p.Gly692Arg | |
| NM_000089.3:c.2080G>C , LRG_2t1:c.2080G>C | NP_000080.2:p.Gly694Arg | |
| NM_000089.4:c.2080G>C MANE Select | NP_000080.2:p.Gly694Arg |