HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229431675A>C , CM000663.2:g.229431675A>C | GRCh38 |
NC_000001.10:g.229567422A>C , CM000663.1:g.229567422A>C | GRCh37 |
NC_000001.9:g.227634045A>C | NCBI36 |
NG_006672.1:g.7422T>G , LRG_429:g.7422T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.990+46T>G | ENSP00000355644.4:n.990+46T>G | |
ENST00000684723.1:c.856-33T>G | ENSP00000508084.1:n.856-33T>G | |
ENST00000366683.3:c.622-33T>G | ENSP00000355644.3:n.622-33T>G | |
ENST00000366684.7:c.991-33T>G MANE Select | ENSP00000355645.3:n.991-33T>G | |
NM_001100.3:c.991-33T>G , LRG_429t1:c.991-33T>G | NP_001091.1:n.991-33T>G | |
NM_001100.4:c.991-33T>G MANE Select | NP_001091.1:n.991-33T>G |