HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432336C>A , CM000663.2:g.229432336C>A | GRCh38 |
NC_000001.10:g.229568083C>A , CM000663.1:g.229568083C>A | GRCh37 |
NC_000001.9:g.227634706C>A | NCBI36 |
NG_006672.1:g.6761G>T , LRG_429:g.6761G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366683.4:c.550G>T | ENSP00000355644.4:p.Gly184Cys | |
ENST00000684723.1:c.415G>T | ENSP00000508084.1:p.Gly139Cys | |
ENST00000366683.3:c.479+71G>T | ENSP00000355644.3:n.479+71G>T | |
ENST00000366684.7:c.550G>T MANE Select | ENSP00000355645.3:p.Gly184Cys | |
NM_001100.3:c.550G>T , LRG_429t1:c.550G>T | NP_001091.1:p.Gly184Cys | |
NM_001100.4:c.550G>T MANE Select | NP_001091.1:p.Gly184Cys |