Revel Score:
ENST00000312614
0.075
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.4587815T>C , CM000673.2:g.4587815T>C | GRCh38 |
| NC_000011.9:g.4609045T>C , CM000673.1:g.4609045T>C | GRCh37 |
| NC_000011.8:g.4565621T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641486.1:c.925T>C | ENSP00000493314.1:p.Trp309Arg | |
| ENST00000641896.1:c.925T>C MANE Select | ENSP00000493402.1:p.Trp309Arg | |
| ENST00000312614.4:c.1003T>C | ENSP00000308764.4:p.Trp335Arg | |
| NM_001005170.2:c.1003T>C | NP_001005170.1:p.Trp335Arg | |
| NM_001005170.3:c.1003T>C | NP_001005170.1:p.Trp335Arg |