Revel Score:
ENST00000371265
0.491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54999325G>C , CM000663.2:g.54999325G>C | GRCh38 |
| NC_000001.10:g.55464998G>C , CM000663.1:g.55464998G>C | GRCh37 |
| NC_000001.9:g.55237586G>C | NCBI36 |
| NG_008965.1:g.5382G>C | |
| NG_008965.2:g.5393G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651561.1:c.139G>C MANE Select | ENSP00000498282.1:p.Gly47Arg | |
| ENST00000371265.4:c.139G>C | ENSP00000360312.4:p.Gly47Arg | |
| NM_057176.2:c.139G>C | NP_476517.1:p.Gly47Arg | |
| NM_057176.3:c.139G>C MANE Select | NP_476517.1:p.Gly47Arg |