HGVS | Genome Assembly |
---|---|
NC_000006.12:g.160077028C= , CM000668.2:g.160077028C= | GRCh38 |
NC_000006.11:g.160498060C= , CM000668.1:g.160498060C= | GRCh37 |
NC_000006.10:g.160418050C= | NCBI36 |
NG_011785.3:g.112930C= | |
NG_011785.4:g.112930C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356956.6:c.5316+1032C= MANE Select | ENSP00000349437.1:n.5316+1032C= | |
ENST00000650503.1:n.1926+1032C= | ||
ENST00000676781.1:c.*3424+1032C= | ENSP00000504419.1:n.*3424+1032C= | |
ENST00000677704.1:c.*1187+1032C= | ENSP00000503314.1:n.*1187+1032C= | |
ENST00000356956.5:c.5316+1032C= | ENSP00000349437.1:n.5316+1032C= | |
NM_000876.2:c.5316+1032C= | NP_000867.2:n.5316+1032C= | |
NM_000876.3:c.5316+1032C= | NP_000867.2:n.5316+1032C= | |
NM_000876.4:c.5316+1032C= MANE Select | NP_000867.3:n.5316+1032C= |