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