Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243828A>C , CM000673.2:g.72243828A>C | GRCh38 |
| NC_000011.9:g.71954872A>C , CM000673.1:g.71954872A>C | GRCh37 |
| NC_000011.8:g.71632520A>C | NCBI36 |
| NG_008169.1:g.5349T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.177T>G MANE Select | ENSP00000298231.5:p.Leu59= | |
| ENST00000544057.1:n.85+1752T>G | ||
| NM_005169.3:c.177T>G | NP_005160.2:p.Leu59= | |
| NM_005169.4:c.177T>G MANE Select | NP_005160.2:p.Leu59= |