Revel Score:
ENST00000316623 (MANE Select)
0.968
ENST00000389087
0.968
ENST00000544030
0.968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432911A>G , CM000677.2:g.48432911A>G | GRCh38 |
| NC_000015.9:g.48725108A>G , CM000677.1:g.48725108A>G | GRCh37 |
| NC_000015.8:g.46512400A>G | NCBI36 |
| NG_008805.2:g.217878T>C , LRG_778:g.217878T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6694T>C | ENSP00000453958.2:p.Cys2232Arg | |
| ENST00000674301.2:c.*145T>C | ENSP00000501333.2:n.*145T>C | |
| ENST00000682170.1:n.303T>C | ||
| ENST00000316623.10:c.6694T>C MANE Select | ENSP00000325527.5:p.Cys2232Arg | |
| ENST00000674301.1:c.1798T>C | ENSP00000501333.1:n.1798T>C | |
| ENST00000316623.9:c.6694T>C | ENSP00000325527.5:p.Cys2232Arg | |
| ENST00000537463.6:c.*2457T>C | ENSP00000440294.2:n.*2457T>C | |
| ENST00000559133.5:c.2001T>C | ||
| NM_000138.4:c.6694T>C , LRG_778t1:c.6694T>C | NP_000129.3:p.Cys2232Arg | |
| NM_000138.5:c.6694T>C MANE Select | NP_000129.3:p.Cys2232Arg |