HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432268A>T , CM000663.2:g.229432268A>T | GRCh38 |
NC_000001.10:g.229568015A>T , CM000663.1:g.229568015A>T | GRCh37 |
NC_000001.9:g.227634638A>T | NCBI36 |
NG_006672.1:g.6829T>A , LRG_429:g.6829T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.616+2T>A | ENSP00000355644.4:n.616+2T>A | |
ENST00000684723.1:c.481+2T>A | ENSP00000508084.1:n.481+2T>A | |
ENST00000366683.3:c.479+139T>A | ENSP00000355644.3:n.479+139T>A | |
ENST00000366684.7:c.616+2T>A MANE Select | ENSP00000355645.3:n.616+2T>A | |
NM_001100.3:c.616+2T>A , LRG_429t1:c.616+2T>A | NP_001091.1:n.616+2T>A | |
NM_001100.4:c.616+2T>A MANE Select | NP_001091.1:n.616+2T>A |