Revel Score:
ENST00000295589 (MANE Select)
0.291
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.26481832C>G , CM000666.2:g.26481832C>G | GRCh38 |
| NC_000004.11:g.26483454C>G , CM000666.1:g.26483454C>G | GRCh37 |
| NC_000004.10:g.26092552C>G | NCBI36 |
| NG_012053.1:g.13589G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295589.4:c.1093G>C MANE Select | ENSP00000295589.3:p.Val365Leu | |
| ENST00000295589.3:c.1093G>C | ENSP00000295589.3:p.Val365Leu | |
| NM_000730.2:c.1093G>C | NP_000721.1:p.Val365Leu | |
| NM_000730.3:c.1093G>C MANE Select | NP_000721.1:p.Val365Leu |