HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739642C= , CM000674.2:g.120739642C= | GRCh38 |
NC_000012.11:g.121177445C= , CM000674.1:g.121177445C= | GRCh37 |
NC_000012.10:g.119661828C= | NCBI36 |
NG_007991.1:g.18875C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*194C= MANE Select | ENSP00000242592.4:n.*194C= | |
ENST00000242592.8:c.*194C= | ENSP00000242592.4:n.*194C= | |
NM_000017.3:c.*194C= | NP_000008.1:n.*194C= | |
NM_001302554.1:c.*194C= | NP_001289483.1:n.*194C= | |
NM_000017.4:c.*194C= MANE Select | NP_000008.1:n.*194C= | |
NM_001302554.2:c.*194C= | NP_001289483.1:n.*194C= |