HGVS | Genome Assembly |
---|---|
NC_000006.12:g.134209559A>G , CM000668.2:g.134209559A>G | GRCh38 |
NC_000006.11:g.134530697A>G , CM000668.1:g.134530697A>G | GRCh37 |
NC_000006.10:g.134572390A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367858.10:c.286-2128T>C MANE Select | ENSP00000356832.5:n.286-2128T>C | |
ENST00000367858.9:c.286-2128T>C | ENSP00000356832.5:n.286-2128T>C | |
ENST00000461976.2:c.193-2128T>C | ENSP00000435577.1:n.193-2128T>C | |
ENST00000484353.1:n.86-2128T>C | ||
ENST00000524387.5:n.69-2128T>C | ||
ENST00000531575.5:n.86-2128T>C | ||
NM_001143676.1:c.286-2128T>C | NP_001137148.1:n.286-2128T>C | |
XM_011536071.1:c.286-2128T>C | XP_011534373.1:n.286-2128T>C | |
NM_001143676.3:c.286-2128T>C MANE Select | NP_001137148.1:n.286-2128T>C |