Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88467221G>C , CM000677.2:g.88467221G>C | GRCh38 |
| NC_000015.9:g.89010452G>C , CM000677.1:g.89010452G>C | GRCh37 |
| NC_000015.8:g.86811456G>C | NCBI36 |
| NG_046990.1:g.5182C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022163.4:c.157C>G MANE Select | NP_071446.2:p.Leu53Val |
| ENST00000312475.5:c.157C>G MANE Select | ENSP00000312311.4:p.Leu53Val |
| NM_022163.3:c.157C>G | NP_071446.2:p.Leu53Val |
| ENST00000312475.4:c.157C>G | ENSP00000312311.4:p.Leu53Val |
| ENST00000558531.1:c.157C>G | ENSP00000477676.1:p.Leu53Val |
| ENST00000560703.1:c.157C>G | ENSP00000453881.1:p.Leu53Val |
| ENST00000561140.1:n.91-1448C>G | |
| ENST00000649547.1:c.*756-1448C>G | ENSP00000497509.1:n.*756-1448C>G |