HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432269C= , CM000663.2:g.229432269C= | GRCh38 |
NC_000001.10:g.229568016C= , CM000663.1:g.229568016C= | GRCh37 |
NC_000001.9:g.227634639C= | NCBI36 |
NG_006672.1:g.6828G= , LRG_429:g.6828G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.616+1G= | ENSP00000355644.4:n.616+1G= | |
ENST00000684723.1:c.481+1G= | ENSP00000508084.1:n.481+1G= | |
ENST00000366683.3:c.479+138G= | ENSP00000355644.3:n.479+138G= | |
ENST00000366684.7:c.616+1G= MANE Select | ENSP00000355645.3:n.616+1G= | |
NM_001100.3:c.616+1G= , LRG_429t1:c.616+1G= | NP_001091.1:n.616+1G= | |
NM_001100.4:c.616+1G= MANE Select | NP_001091.1:n.616+1G= |