Revel Score:
ENST00000295206 (MANE Select)
0.214
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118846917T>C , CM000664.2:g.118846917T>C | GRCh38 |
| NC_000002.11:g.119604493T>C , CM000664.1:g.119604493T>C | GRCh37 |
| NC_000002.10:g.119320963T>C | NCBI36 |
| NG_007123.1:g.6267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295206.7:c.251A>G MANE Select | ENSP00000295206.5:p.Gln84Arg | |
| ENST00000295206.6:c.251A>G | ENSP00000295206.5:p.Gln84Arg | |
| NM_001426.3:c.251A>G | NP_001417.3:p.Gln84Arg | |
| NM_001426.4:c.251A>G MANE Select | NP_001417.3:p.Gln84Arg |