Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845362C>G , CM000681.2:g.40845362C>G | GRCh38 |
| NC_000019.9:g.41351267C>G , CM000681.1:g.41351267C>G | GRCh37 |
| NC_000019.8:g.46043107C>G | NCBI36 |
| NG_008377.1:g.10086G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000762.6:c.1093G>C MANE Select | NP_000753.3:p.Val365Leu |
| ENST00000301141.10:c.1093G>C MANE Select | ENSP00000301141.4:p.Val365Leu |
| NM_000762.5:c.1093G>C | NP_000753.3:p.Val365Leu |
| ENST00000301141.9:c.1093G>C | ENSP00000301141.4:p.Val365Leu |
| ENST00000596719.5:n.944G>C | |
| ENST00000601627.1:c.119+43947C>G | |
| ENST00000610301.1:c.1093G>C | ENSP00000477899.1:p.Val365Leu |