HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431687A>C , CM000663.2:g.229431687A>C | GRCh38 |
NC_000001.10:g.229567434A>C , CM000663.1:g.229567434A>C | GRCh37 |
NC_000001.9:g.227634057A>C | NCBI36 |
NG_006672.1:g.7410T>G , LRG_429:g.7410T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.990+34T>G | ENSP00000355644.4:n.990+34T>G | |
ENST00000684723.1:c.855+34T>G | ENSP00000508084.1:n.855+34T>G | |
ENST00000366683.3:c.621+34T>G | ENSP00000355644.3:n.621+34T>G | |
ENST00000366684.7:c.990+34T>G MANE Select | ENSP00000355645.3:n.990+34T>G | |
NM_001100.3:c.990+34T>G , LRG_429t1:c.990+34T>G | NP_001091.1:n.990+34T>G | |
NM_001100.4:c.990+34T>G MANE Select | NP_001091.1:n.990+34T>G |