HGVS | Genome Assembly |
---|---|
NC_000002.12:g.96251622T>A , CM000664.2:g.96251622T>A | GRCh38 |
NC_000002.11:g.96917360T>A , CM000664.1:g.96917360T>A | GRCh37 |
NC_000002.10:g.96281087T>A | NCBI36 |
NG_027695.1:g.19392A>T , LRG_528:g.19392A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258439.8:c.*2186A>T MANE Select | ENSP00000258439.3:n.*2186A>T | |
ENST00000258439.7:c.*2186A>T | ENSP00000258439.2:n.*2186A>T | |
NM_001193304.2:c.*2186A>T | NP_001180233.1:n.*2186A>T | |
NM_017849.3:c.*2186A>T , LRG_528t1:c.*2186A>T | NP_060319.1:n.*2186A>T | |
XM_017004450.1:c.*1487A>T | XP_016859939.1:n.*1487A>T | |
XM_017004452.1:c.*2186A>T | XP_016859941.1:n.*2186A>T | |
NM_001193304.3:c.*2186A>T | NP_001180233.1:n.*2186A>T | |
NM_017849.4:c.*2186A>T MANE Select | NP_060319.1:n.*2186A>T |