Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23046776T>A , CM000682.2:g.23046776T>A | GRCh38 |
| NC_000020.10:g.23027413T>A , CM000682.1:g.23027413T>A | GRCh37 |
| NC_000020.9:g.22975413T>A | NCBI36 |
| NG_012027.1:g.7889A>T , LRG_168:g.7889A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000361.3:c.*1001A>T MANE Select | NP_000352.1:n.*1001A>T |
| ENST00000377103.3:c.*1001A>T MANE Select | ENSP00000366307.2:n.*1001A>T |
| NM_000361.2:c.*1001A>T , LRG_168t1:c.*1001A>T | NP_000352.1:n.*1001A>T |
| ENST00000377103.2:c.*1001A>T | ENSP00000366307.2:n.*1001A>T |