Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70435498G>C , CM000672.2:g.70435498G>C | GRCh38 |
| NC_000010.10:g.72195254G>C , CM000672.1:g.72195254G>C | GRCh37 |
| NC_000010.9:g.71865260G>C | NCBI36 |
| NG_012448.1:g.11212C>G | |
| NG_012448.2:g.17451C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018055.5:c.679C>G MANE Select | NP_060525.3:p.Leu227Val |
| ENST00000287139.8:c.679C>G MANE Select | ENSP00000287139.3:p.Leu227Val |
| NM_001329906.1:c.280C>G | NP_001316835.1:p.Leu94Val |
| NM_001329906.2:c.280C>G | NP_001316835.1:p.Leu94Val |
| NM_018055.4:c.679C>G | NP_060525.3:p.Leu227Val |
| ENST00000287139.7:c.679C>G | ENSP00000287139.3:p.Leu227Val |
| ENST00000414871.1:c.514C>G | ENSP00000394468.1:p.Leu172Val |
| XM_024448028.1:c.280C>G | XP_024303796.1:p.Leu94Val |