Revel Score:
ENST00000316623 (MANE Select)
0.867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415735C>G , CM000677.2:g.48415735C>G | GRCh38 |
| NC_000015.9:g.48707932C>G , CM000677.1:g.48707932C>G | GRCh37 |
| NC_000015.8:g.46495224C>G | NCBI36 |
| NG_008805.2:g.235054G>C , LRG_778:g.235054G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*660G>C | ENSP00000453958.2:n.*660G>C | |
| ENST00000674301.2:c.*1365G>C | ENSP00000501333.2:n.*1365G>C | |
| ENST00000682158.1:n.1233G>C | ||
| ENST00000682170.1:n.2033G>C | ||
| ENST00000682767.1:n.1149G>C | ||
| ENST00000316623.10:c.7852G>C MANE Select | ENSP00000325527.5:p.Gly2618Arg | |
| ENST00000674301.1:c.3018G>C | ENSP00000501333.1:n.3018G>C | |
| ENST00000316623.9:c.7852G>C | ENSP00000325527.5:p.Gly2618Arg | |
| ENST00000559133.5:c.3221G>C | ||
| ENST00000561429.1:n.107G>C | ||
| NM_000138.4:c.7852G>C , LRG_778t1:c.7852G>C | NP_000129.3:p.Gly2618Arg | |
| NM_000138.5:c.7852G>C MANE Select | NP_000129.3:p.Gly2618Arg |