This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965700G>C , CM000670.2:g.37965700G>C | GRCh38 |
| NC_000008.10:g.37823218G>C , CM000670.1:g.37823218G>C | GRCh37 |
| NC_000008.9:g.37942375G>C | NCBI36 |
| NG_011936.1:g.5967C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.770C>G MANE Select | ENSP00000343782.3:p.Ser257Cys | |
| ENST00000520341.2:n.898C>G | ||
| ENST00000647937.1:c.254C>G | ENSP00000497740.1:p.Ser85Cys | |
| ENST00000345060.4:c.770C>G | ENSP00000343782.3:p.Ser257Cys | |
| ENST00000520341.1:n.45C>G | ||
| ENST00000614635.1:c.770C>G | ENSP00000480325.1:p.Ser257Cys | |
| NM_000025.2:c.770C>G | NP_000016.1:p.Ser257Cys | |
| NM_000025.3:c.770C>G MANE Select | NP_000016.1:p.Ser257Cys |