Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.16272592C>G , CM000674.2:g.16272592C>G | GRCh38 |
| NC_000012.11:g.16425526C>G , CM000674.1:g.16425526C>G | GRCh37 |
| NC_000012.10:g.16316793C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344941.3:c.553G>C MANE Select | ENSP00000340402.3:p.Gly185Arg | |
| NM_001170798.1:c.553G>C MANE Select | NP_001164269.1:p.Gly185Arg | |
| XR_429049.2:n.1547C>G | ||
| XR_001749028.1:n.624C>G | ||
| XR_001749029.1:n.2147C>G |