Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104803442T>A , CM000676.2:g.104803442T>A | GRCh38 |
| NC_000014.8:g.105269779T>A , CM000676.1:g.105269779T>A | GRCh37 |
| NC_000014.7:g.104340824T>A | NCBI36 |
| NG_042073.1:g.7262T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001137601.3:c.*976T>A MANE Select | NP_001131073.1:n.*976T>A |
| ENST00000342537.8:c.*976T>A MANE Select | ENSP00000409107.2:n.*976T>A |
| NM_001137601.1:c.*976T>A | NP_001131073.1:n.*976T>A |
| NM_001137601.2:c.*976T>A | NP_001131073.1:n.*976T>A |
| NM_001370342.1:c.*976T>A | NP_001357271.1:n.*976T>A |
| ENST00000342537.7:c.*976T>A | ENSP00000409107.2:n.*976T>A |
| XM_017020911.1:c.*976T>A | XP_016876400.1:n.*976T>A |