HGVS | Genome Assembly |
---|---|
NC_000001.11:g.229432168G>A , CM000663.2:g.229432168G>A | GRCh38 |
NC_000001.10:g.229567915G>A , CM000663.1:g.229567915G>A | GRCh37 |
NC_000001.9:g.227634538G>A | NCBI36 |
NG_006672.1:g.6929C>T , LRG_429:g.6929C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366683.4:c.634C>T | ENSP00000355644.4:p.Arg212Cys | |
ENST00000684723.1:c.499C>T | ENSP00000508084.1:p.Arg167Cys | |
ENST00000366683.3:c.479+239C>T | ENSP00000355644.3:n.479+239C>T | |
ENST00000366684.7:c.634C>T MANE Select | ENSP00000355645.3:p.Arg212Cys | |
NM_001100.3:c.634C>T , LRG_429t1:c.634C>T | NP_001091.1:p.Arg212Cys | |
NM_001100.4:c.634C>T MANE Select | NP_001091.1:p.Arg212Cys |