HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862881A>C , CM000666.2:g.4862881A>C | GRCh38 |
NC_000004.11:g.4864608A>C , CM000666.1:g.4864608A>C | GRCh37 |
NC_000004.10:g.4915509A>C | NCBI36 |
NG_008121.1:g.8217A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.650A>C MANE Select | ENSP00000372170.4:p.Lys217Thr | |
ENST00000382723.4:c.650A>C | ENSP00000372170.4:p.Lys217Thr | |
ENST00000468421.1:n.362A>C | ||
NM_002448.3:c.650A>C MANE Select | NP_002439.2:p.Lys217Thr |