Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21761064G= , CM000684.2:g.21761064G= | GRCh38 |
| NC_000022.10:g.22115353G= , CM000684.1:g.22115353G= | GRCh37 |
| NC_000022.9:g.20445353G= | NCBI36 |
| NG_023054.2:g.111617C= , LRG_786:g.111617C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.*3186C= MANE Select | NP_002736.3:n.*3186C= |
| ENST00000215832.11:c.*3186C= MANE Select | ENSP00000215832.7:n.*3186C= |
| NM_002745.4:c.*3186C= , LRG_786t1:c.*3186C= | NP_002736.3:n.*3186C= |
| ENST00000215832.10:c.*3186C= | ENSP00000215832.6:n.*3186C= |