HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432152T>C , CM000663.2:g.229432152T>C | GRCh38 |
NC_000001.10:g.229567899T>C , CM000663.1:g.229567899T>C | GRCh37 |
NC_000001.9:g.227634522T>C | NCBI36 |
NG_006672.1:g.6945A>G , LRG_429:g.6945A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.650A>G | ENSP00000355644.4:p.Lys217Arg | |
ENST00000684723.1:c.515A>G | ENSP00000508084.1:p.Lys172Arg | |
ENST00000366683.3:c.479+255A>G | ENSP00000355644.3:n.479+255A>G | |
ENST00000366684.7:c.650A>G MANE Select | ENSP00000355645.3:p.Lys217Arg | |
NM_001100.3:c.650A>G , LRG_429t1:c.650A>G | NP_001091.1:p.Lys217Arg | |
NM_001100.4:c.650A>G MANE Select | NP_001091.1:p.Lys217Arg |