Revel Score:
ENST00000375499 (MANE Select)
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044825G>C , CM000663.2:g.17044825G>C | GRCh38 |
| NC_000001.10:g.17371320G>C , CM000663.1:g.17371320G>C | GRCh37 |
| NC_000001.9:g.17243907G>C | NCBI36 |
| NG_012340.1:g.14346C>G , LRG_316:g.14346C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-36C>G | ENSP00000481376.2:n.-36C>G | |
| ENST00000491274.6:c.94C>G | ENSP00000480482.2:p.Arg32Gly | |
| ENST00000375499.8:c.136C>G MANE Select | ENSP00000364649.3:p.Arg46Gly | |
| ENST00000375499.7:c.136C>G | ENSP00000364649.3:p.Arg46Gly | |
| ENST00000463045.2:c.-36C>G | ENSP00000481376.1:n.-36C>G | |
| ENST00000466613.2:n.148C>G | ||
| ENST00000475506.1:n.53C>G | ||
| ENST00000485515.5:n.124C>G | ||
| ENST00000491274.5:c.94C>G | ENSP00000480482.1:p.Arg32Gly | |
| NM_003000.2:c.136C>G , LRG_316t1:c.136C>G | NP_002991.2:p.Arg46Gly | |
| NM_003000.3:c.136C>G MANE Select | NP_002991.2:p.Arg46Gly |