HGVS | Genome Assembly |
---|---|
NC_000001.11:g.193251491C>A , CM000663.2:g.193251491C>A | GRCh38 |
NC_000001.10:g.193220621C>A , CM000663.1:g.193220621C>A | GRCh37 |
NC_000001.9:g.191487244C>A | NCBI36 |
NG_012691.1:g.134534C>A , LRG_507:g.134534C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367435.5:c.*779C>A MANE Select | ENSP00000356405.4:n.*779C>A | |
ENST00000635846.1:c.*779C>A | ENSP00000490035.1:n.*779C>A | |
ENST00000643006.1:c.*1285C>A | ENSP00000496633.1:n.*1285C>A | |
ENST00000367435.3:c.*779C>A | ENSP00000356405.3:n.*779C>A | |
NM_024529.4:c.*779C>A , LRG_507t1:c.*779C>A | NP_078805.3:n.*779C>A | |
NM_024529.5:c.*779C>A MANE Select | NP_078805.3:n.*779C>A |