HGVS | Genome Assembly |
---|---|
NC_000012.12:g.108250213A>G , CM000674.2:g.108250213A>G | GRCh38 |
NC_000012.11:g.108643990A>G , CM000674.1:g.108643990A>G | GRCh37 |
NC_000012.10:g.107168120A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000547525.6:c.*1870A>G MANE Select | ENSP00000448047.1:n.*1870A>G | |
ENST00000332082.8:c.*1870A>G | ENSP00000331933.4:n.*1870A>G | |
NM_001304447.1:c.*1870A>G | NP_001291376.1:n.*1870A>G | |
NM_014653.3:c.*1870A>G | NP_055468.2:n.*1870A>G | |
NM_014653.4:c.*1870A>G MANE Select | NP_055468.2:n.*1870A>G | |
NM_001304447.2:c.*1870A>G | NP_001291376.1:n.*1870A>G |