HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225538G>T , CM000673.2:g.5225538G>T | GRCh38 |
NC_000011.9:g.5246768G>T , CM000673.1:g.5246768G>T | GRCh37 |
NC_000011.8:g.5203344G>T | NCBI36 |
NG_000007.3:g.72078C>A | |
NG_059281.1:g.6534C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647020.1:c.*60C>A | ENSP00000494175.1:n.*60C>A | |
ENST00000335295.4:c.*60C>A MANE Select | ENSP00000333994.3:n.*60C>A | |
ENST00000633227.1:c.*320C>A | ENSP00000488004.1:n.*320C>A | |
NM_000518.4:c.*60C>A | NP_000509.1:n.*60C>A | |
NM_000518.5:c.*60C>A MANE Select | NP_000509.1:n.*60C>A |