HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320426A>C , CM000667.2:g.159320426A>C | GRCh38 |
NC_000005.9:g.158747434A>C , CM000667.1:g.158747434A>C | GRCh37 |
NC_000005.8:g.158680012A>C | NCBI36 |
NG_009618.1:g.15048T>G , LRG_71:g.15048T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.-54T>G | ENSP00000512849.1:n.-54T>G | |
ENST00000696751.1:c.*72T>G | ENSP00000512850.1:n.*72T>G | |
ENST00000231228.3:c.577T>G MANE Select | ENSP00000231228.2:p.Cys193Gly | |
ENST00000231228.2:c.577T>G | ENSP00000231228.2:p.Cys193Gly | |
NM_002187.2:c.577T>G , LRG_71t1:c.577T>G | NP_002178.2:p.Cys193Gly | |
NM_002187.3:c.577T>G MANE Select | NP_002178.2:p.Cys193Gly |