Revel Score:
ENST00000354348
0.754
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.27139535A>G , CM000668.2:g.27139535A>G | GRCh38 |
| NC_000006.11:g.27107314A>G , CM000668.1:g.27107314A>G | GRCh37 |
| NC_000006.10:g.27215293A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615353.2:c.227A>G (H4C9) MANE Select | ENSP00000481486.1:p.His76Arg | |
| ENST00000615353.1:c.227A>G (H4C9) | ENSP00000481486.1:p.His76Arg | |
| NM_003495.2:c.227A>G (H4C9) | NP_003486.1:p.His76Arg | |
| NM_080593.2:c.*10-854T>C (H2BC12) | NP_542160.1:n.*10-854T>C | |
| NM_003495.3:c.227A>G (H4C9) MANE Select | NP_003486.1:p.His76Arg |