Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516662T>G , CM000674.2:g.52516662T>G | GRCh38 |
| NC_000012.11:g.52910446T>G , CM000674.1:g.52910446T>G | GRCh37 |
| NC_000012.10:g.51196713T>G | NCBI36 |
| NG_008297.1:g.8798A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1414A>C MANE Select | ENSP00000252242.4:p.Lys472Gln | |
| ENST00000252242.8:c.1414A>C | ENSP00000252242.4:p.Lys472Gln | |
| ENST00000548409.5:c.536A>C | ||
| ENST00000549511.5:n.621A>C | ||
| ENST00000552629.5:n.1512A>C | ||
| NM_000424.3:c.1414A>C | NP_000415.2:p.Lys472Gln | |
| NM_000424.4:c.1414A>C MANE Select | NP_000415.2:p.Lys472Gln |