HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085253G= , CM000666.2:g.186085253G= | GRCh38 |
NC_000004.11:g.187006407G= , CM000666.1:g.187006407G= | GRCh37 |
NC_000004.10:g.187243401G= | NCBI36 |
NG_007278.1:g.21099G= , LRG_117:g.21099G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*2647G= | ENSP00000513675.1:n.*2647G= | |
ENST00000698353.1:n.2970G= | ||
ENST00000698354.1:c.*380G= | ENSP00000513676.1:n.*380G= | |
ENST00000296795.8:c.*380G= MANE Select | ENSP00000296795.3:n.*380G= | |
ENST00000296795.7:c.*380G= | ENSP00000296795.2:n.*380G= | |
NM_003265.3:c.*380G= MANE Select | NP_003256.1:n.*380G= |