Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108308037T>A , CM000675.2:g.108308037T>A | GRCh38 |
| NC_000013.10:g.108960385T>A , CM000675.1:g.108960385T>A | GRCh37 |
| NC_000013.9:g.107758386T>A | NCBI36 |
| NG_029524.1:g.43409T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006573.5:c.*1099T>A MANE Select | NP_006564.1:n.*1099T>A |
| ENST00000375887.9:c.*1099T>A MANE Select | ENSP00000365048.3:n.*1099T>A |
| NM_001145645.2:c.*1099T>A | NP_001139117.1:n.*1099T>A |
| NM_006573.4:c.*1099T>A | NP_006564.1:n.*1099T>A |
| ENST00000375887.8:c.*1099T>A | ENSP00000365048.3:n.*1099T>A |
| ENST00000430559.5:c.*1099T>A | ENSP00000389540.1:n.*1099T>A |