Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.19841262T>A , CM000668.2:g.19841262T>A | GRCh38 |
| NC_000006.11:g.19841493T>A , CM000668.1:g.19841493T>A | GRCh37 |
| NC_000006.10:g.19949472T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378700.8:c.*2067T>A MANE Select | ENSP00000367972.3:n.*2067T>A | |
| NM_001546.3:c.*2067T>A | NP_001537.1:n.*2067T>A | |
| NM_001546.4:c.*2067T>A MANE Select | NP_001537.1:n.*2067T>A |