Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33675499T>A , CM000682.2:g.33675499T>A | GRCh38 |
| NC_000020.10:g.32263305T>A , CM000682.1:g.32263305T>A | GRCh37 |
| NC_000020.9:g.31726966T>A | NCBI36 |
| NG_046988.1:g.15906A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343380.6:c.*1233A>T MANE Select | ENSP00000345571.5:n.*1233A>T | |
| NM_005225.2:c.*1233A>T | NP_005216.1:n.*1233A>T | |
| NM_005225.3:c.*1233A>T MANE Select | NP_005216.1:n.*1233A>T |