Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24951554C>T , CM000670.2:g.24951554C>T | GRCh38 |
| NC_000008.10:g.24809067C>T , CM000670.1:g.24809067C>T | GRCh37 |
| NC_000008.9:g.24864984C>T | NCBI36 |
| NG_008492.1:g.10064G>A , LRG_259:g.10064G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.*1256G>A MANE Select | NP_006149.2:n.*1256G>A |
| ENST00000610854.2:c.*1256G>A MANE Select | ENSP00000482169.2:n.*1256G>A |
| NM_006158.4:c.*1256G>A , LRG_259t1:c.*1256G>A | NP_006149.2:n.*1256G>A |
| ENST00000610854.1:c.*1256G>A | ENSP00000482169.1:n.*1256G>A |