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