Revel Score:
ENST00000316623 (MANE Select)
0.907
ENST00000389087
0.907
ENST00000544030
0.907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48432975A>C , CM000677.2:g.48432975A>C | GRCh38 |
| NC_000015.9:g.48725172A>C , CM000677.1:g.48725172A>C | GRCh37 |
| NC_000015.8:g.46512464A>C | NCBI36 |
| NG_008805.2:g.217814T>G , LRG_778:g.217814T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6630T>G | ENSP00000453958.2:p.Cys2210Trp | |
| ENST00000674301.2:c.*81T>G | ENSP00000501333.2:n.*81T>G | |
| ENST00000682170.1:n.239T>G | ||
| ENST00000316623.10:c.6630T>G MANE Select | ENSP00000325527.5:p.Cys2210Trp | |
| ENST00000674301.1:c.1734T>G | ENSP00000501333.1:n.1734T>G | |
| ENST00000316623.9:c.6630T>G | ENSP00000325527.5:p.Cys2210Trp | |
| ENST00000537463.6:c.*2393T>G | ENSP00000440294.2:n.*2393T>G | |
| ENST00000559133.5:c.1937T>G | ||
| NM_000138.4:c.6630T>G , LRG_778t1:c.6630T>G | NP_000129.3:p.Cys2210Trp | |
| NM_000138.5:c.6630T>G MANE Select | NP_000129.3:p.Cys2210Trp |