Revel Score:
ENST00000316623 (MANE Select)
0.984
ENST00000389087
0.984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430749A>C , CM000677.2:g.48430749A>C | GRCh38 |
| NC_000015.9:g.48722946A>C , CM000677.1:g.48722946A>C | GRCh37 |
| NC_000015.8:g.46510238A>C | NCBI36 |
| NG_008805.2:g.220040T>G , LRG_778:g.220040T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6793T>G | ENSP00000453958.2:p.Cys2265Gly | |
| ENST00000674301.2:c.*244T>G | ENSP00000501333.2:n.*244T>G | |
| ENST00000682170.1:n.402T>G | ||
| ENST00000316623.10:c.6793T>G MANE Select | ENSP00000325527.5:p.Cys2265Gly | |
| ENST00000674301.1:c.1897T>G | ENSP00000501333.1:n.1897T>G | |
| ENST00000316623.9:c.6793T>G | ENSP00000325527.5:p.Cys2265Gly | |
| ENST00000559133.5:c.2100T>G | ||
| ENST00000560720.1:n.80T>G | ||
| NM_000138.4:c.6793T>G , LRG_778t1:c.6793T>G | NP_000129.3:p.Cys2265Gly | |
| NM_000138.5:c.6793T>G MANE Select | NP_000129.3:p.Cys2265Gly |