Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046984T>A , CM000682.2:g.23046984T>A | GRCh38 |
| NC_000020.10:g.23027621T>A , CM000682.1:g.23027621T>A | GRCh37 |
| NC_000020.9:g.22975621T>A | NCBI36 |
| NG_012027.1:g.7681A>T , LRG_168:g.7681A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.*793A>T MANE Select | NP_000352.1:n.*793A>T |
| ENST00000377103.3:c.*793A>T MANE Select | ENSP00000366307.2:n.*793A>T |
| NM_000361.2:c.*793A>T , LRG_168t1:c.*793A>T | NP_000352.1:n.*793A>T |
| ENST00000377103.2:c.*793A>T | ENSP00000366307.2:n.*793A>T |