HGVS | Genome Assembly |
---|---|
NC_000010.11:g.113588418C>A , CM000672.2:g.113588418C>A | GRCh38 |
NC_000010.10:g.115348177C>A , CM000672.1:g.115348177C>A | GRCh37 |
NC_000010.9:g.115338167C>A | NCBI36 |
NG_008956.1:g.40400C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351270.4:c.*49C>A MANE Select | ENSP00000277903.4:n.*49C>A | |
ENST00000351270.3:c.*49C>A | ENSP00000277903.4:n.*49C>A | |
ENST00000542051.5:c.*49C>A | ENSP00000443283.1:n.*49C>A | |
NM_001177660.1:c.*49C>A | NP_001171131.1:n.*49C>A | |
NM_004132.3:c.*49C>A | NP_004123.1:n.*49C>A | |
NM_001177660.2:c.*49C>A | NP_001171131.1:n.*49C>A | |
NM_004132.4:c.*49C>A | NP_004123.1:n.*49C>A | |
NM_004132.5:c.*49C>A MANE Select | NP_004123.1:n.*49C>A | |
NM_001177660.3:c.*49C>A | NP_001171131.1:n.*49C>A |