Revel Score:
ENST00000389087
0.251
ENST00000316623 (MANE Select)
0.931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427659C>G , CM000677.2:g.48427659C>G | GRCh38 |
| NC_000015.9:g.48719856C>G , CM000677.1:g.48719856C>G | GRCh37 |
| NC_000015.8:g.46507148C>G | NCBI36 |
| NG_008805.2:g.223130G>C , LRG_778:g.223130G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7174G>C | ENSP00000453958.2:p.Gly2392Arg | |
| ENST00000674301.2:c.*625G>C | ENSP00000501333.2:n.*625G>C | |
| ENST00000682170.1:n.1293G>C | ||
| ENST00000682767.1:n.409G>C | ||
| ENST00000316623.10:c.7112G>C MANE Select | ENSP00000325527.5:p.Trp2371Ser | |
| ENST00000674301.1:c.2278G>C | ENSP00000501333.1:n.2278G>C | |
| ENST00000316623.9:c.7112G>C | ENSP00000325527.5:p.Trp2371Ser | |
| ENST00000559133.5:c.2481G>C | ||
| NM_000138.4:c.7112G>C , LRG_778t1:c.7112G>C | NP_000129.3:p.Trp2371Ser | |
| NM_000138.5:c.7112G>C MANE Select | NP_000129.3:p.Trp2371Ser |