HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432231C= , CM000663.2:g.229432231C= | GRCh38 |
NC_000001.10:g.229567978C= , CM000663.1:g.229567978C= | GRCh37 |
NC_000001.9:g.227634601C= | NCBI36 |
NG_006672.1:g.6866G= , LRG_429:g.6866G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.616+39G= | ENSP00000355644.4:n.616+39G= | |
ENST00000684723.1:c.481+39G= | ENSP00000508084.1:n.481+39G= | |
ENST00000366683.3:c.479+176G= | ENSP00000355644.3:n.479+176G= | |
ENST00000366684.7:c.616+39G= MANE Select | ENSP00000355645.3:n.616+39G= | |
NM_001100.3:c.616+39G= , LRG_429t1:c.616+39G= | NP_001091.1:n.616+39G= | |
NM_001100.4:c.616+39G= MANE Select | NP_001091.1:n.616+39G= |