HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085977C= , CM000666.2:g.186085977C= | GRCh38 |
NC_000004.11:g.187007131C= , CM000666.1:g.187007131C= | GRCh37 |
NC_000004.10:g.187244125C= | NCBI36 |
NG_007278.1:g.21823C= , LRG_117:g.21823C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*3371C= | ENSP00000513675.1:n.*3371C= | |
ENST00000698353.1:n.3694C= | ||
ENST00000698354.1:c.*1104C= | ENSP00000513676.1:n.*1104C= | |
ENST00000296795.8:c.*1104C= MANE Select | ENSP00000296795.3:n.*1104C= | |
ENST00000296795.7:c.*1104C= | ENSP00000296795.2:n.*1104C= | |
NM_003265.3:c.*1104C= MANE Select | NP_003256.1:n.*1104C= |