Revel Score:
ENST00000316623 (MANE Select)
0.985
ENST00000389087
0.985
ENST00000544030
0.985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48448813A>G , CM000677.2:g.48448813A>G | GRCh38 |
| NC_000015.9:g.48741010A>G , CM000677.1:g.48741010A>G | GRCh37 |
| NC_000015.8:g.46528302A>G | NCBI36 |
| NG_008805.2:g.201976T>C , LRG_778:g.201976T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5626T>C | ENSP00000453958.2:p.Cys1876Arg | |
| ENST00000674301.2:c.5626T>C | ENSP00000501333.2:p.Cys1876Arg | |
| ENST00000684448.1:n.4300T>C | ||
| ENST00000316623.10:c.5626T>C MANE Select | ENSP00000325527.5:p.Cys1876Arg | |
| ENST00000674301.1:c.625T>C | ENSP00000501333.1:p.Cys209Arg | |
| ENST00000316623.9:c.5626T>C | ENSP00000325527.5:p.Cys1876Arg | |
| ENST00000537463.6:c.*1389T>C | ENSP00000440294.2:n.*1389T>C | |
| ENST00000559133.5:c.933T>C | ||
| NM_000138.4:c.5626T>C , LRG_778t1:c.5626T>C | NP_000129.3:p.Cys1876Arg | |
| NM_000138.5:c.5626T>C MANE Select | NP_000129.3:p.Cys1876Arg |