HGVS | Genome Assembly |
---|---|
NC_000005.10:g.53093169C>A , CM000667.2:g.53093169C>A | GRCh38 |
NC_000005.9:g.52388999C>A , CM000667.1:g.52388999C>A | GRCh37 |
NC_000005.8:g.52424756C>A | NCBI36 |
NG_008330.1:g.108844C>A | |
NG_008330.2:g.108844C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296585.10:c.*2570C>A MANE Select | ENSP00000296585.5:n.*2570C>A | |
ENST00000296585.9:c.*2570C>A | ENSP00000296585.5:n.*2570C>A | |
NM_002203.3:c.*2570C>A | NP_002194.2:n.*2570C>A | |
NR_073103.1:n.6156C>A | ||
NR_073104.1:n.6117C>A | ||
NR_073105.1:n.6300C>A | ||
NR_073106.1:n.6251C>A | ||
NR_073107.1:n.6138C>A | ||
NM_002203.4:c.*2570C>A MANE Select | NP_002194.2:n.*2570C>A | |
NR_073103.2:n.6130C>A | ||
NR_073104.2:n.6091C>A | ||
NR_073105.2:n.6274C>A | ||
NR_073106.2:n.6225C>A | ||
NR_073107.2:n.6112C>A |