Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21760715C= , CM000684.2:g.21760715C= | GRCh38 |
| NC_000022.10:g.22115004C= , CM000684.1:g.22115004C= | GRCh37 |
| NC_000022.9:g.20445004C= | NCBI36 |
| NG_023054.2:g.111966G= , LRG_786:g.111966G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002745.5:c.*3535G= MANE Select | NP_002736.3:n.*3535G= |
| ENST00000215832.11:c.*3535G= MANE Select | ENSP00000215832.7:n.*3535G= |
| NM_002745.4:c.*3535G= , LRG_786t1:c.*3535G= | NP_002736.3:n.*3535G= |
| ENST00000215832.10:c.*3535G= | ENSP00000215832.6:n.*3535G= |