HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085461T>G , CM000666.2:g.186085461T>G | GRCh38 |
NC_000004.11:g.187006615T>G , CM000666.1:g.187006615T>G | GRCh37 |
NC_000004.10:g.187243609T>G | NCBI36 |
NG_007278.1:g.21307T>G , LRG_117:g.21307T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*2855T>G | ENSP00000513675.1:n.*2855T>G | |
ENST00000698353.1:n.3178T>G | ||
ENST00000698354.1:c.*588T>G | ENSP00000513676.1:n.*588T>G | |
ENST00000296795.8:c.*588T>G MANE Select | ENSP00000296795.3:n.*588T>G | |
ENST00000296795.7:c.*588T>G | ENSP00000296795.2:n.*588T>G | |
NM_003265.3:c.*588T>G MANE Select | NP_003256.1:n.*588T>G |