Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.[23425798G>A;23427657C>T] , CM000676.2:g.[23425798G>A;23427657C>T] | GRCh38 |
| NC_000014.8:g.[23895007G>A;23896866C>T] , CM000676.1:g.[23895007G>A;23896866C>T] | GRCh37 |
| NC_000014.7:g.[22964847G>A;22966706C>T] | NCBI36 |
| NG_007884.1:g.[13005G>A;14864C>T] , LRG_384:g.[13005G>A;14864C>T] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.[1816G>A;2183C>T] MANE Select | NP_000248.2:p.[Val606Met;Ala728Val] |
| ENST00000355349.4:c.[1816G>A;2183C>T] MANE Select | ENSP00000347507.3:p.[Val606Met;Ala728Val] |
| NM_000257.3:c.[1816G>A;2183C>T] | NP_000248.2:p.[Val606Met;Ala728Val] |
| ENST00000355349.3:c.[1816G>A;2183C>T] | ENSP00000347507.3:p.[Val606Met;Ala728Val] |
| XM_017021340.1:c.[1816G>A;2183C>T] | XP_016876829.1:p.[Val606Met;Ala728Val] |
| XR_245686.3:n.[1922G>A;2289C>T] |