HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186079272C= , CM000666.2:g.186079272C= | GRCh38 |
NC_000004.11:g.187000426C= , CM000666.1:g.187000426C= | GRCh37 |
NC_000004.10:g.187237420C= | NCBI36 |
NG_007278.1:g.15118C= , LRG_117:g.15118C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698351.1:c.633+241C= | ENSP00000513674.1:n.633+241C= | |
ENST00000698352.1:c.*185+241C= | ENSP00000513675.1:n.*185+241C= | |
ENST00000296795.8:c.633+241C= MANE Select | ENSP00000296795.3:n.633+241C= | |
ENST00000296795.7:c.633+241C= | ENSP00000296795.2:n.633+241C= | |
ENST00000513189.1:c.633+241C= | ENSP00000423386.1:n.633+241C= | |
NM_003265.2:c.633+241C= , LRG_117t1:c.633+241C= | NP_003256.1:n.633+241C= | |
NM_003265.3:c.633+241C= MANE Select | NP_003256.1:n.633+241C= |