HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159315045G= , CM000667.2:g.159315045G= | GRCh38 |
NC_000005.9:g.158742053G= , CM000667.1:g.158742053G= | GRCh37 |
NC_000005.8:g.158674631G= | NCBI36 |
NG_009618.1:g.20429C= , LRG_71:g.20429C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.*1056C= | ENSP00000512849.1:n.*1056C= | |
ENST00000696751.1:c.*1538C= | ENSP00000512850.1:n.*1538C= | |
ENST00000231228.3:c.*1056C= MANE Select | ENSP00000231228.2:n.*1056C= | |
ENST00000231228.2:c.*1056C= | ENSP00000231228.2:n.*1056C= | |
NM_002187.2:c.*1056C= , LRG_71t1:c.*1056C= | NP_002178.2:n.*1056C= | |
XR_941138.1:n.364-173G= | ||
XR_941138.2:n.431-173G= | ||
NM_002187.3:c.*1056C= MANE Select | NP_002178.2:n.*1056C= |