HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151592978G>A , CM000668.2:g.151592978G>A | GRCh38 |
NC_000006.11:g.151914113G>A , CM000668.1:g.151914113G>A | GRCh37 |
NC_000006.10:g.151955806G>A | NCBI36 |
NG_021198.1:g.103939G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239374.8:c.1294-129G>A MANE Select | ENSP00000239374.6:n.1294-129G>A | |
ENST00000239374.7:c.1294-129G>A | ENSP00000239374.6:n.1294-129G>A | |
NM_025059.3:c.1294-129G>A | NP_079335.2:n.1294-129G>A | |
XM_011536147.1:c.1312-129G>A | XP_011534449.1:n.1312-129G>A | |
XM_011536148.1:c.1111-129G>A | XP_011534450.1:n.1111-129G>A | |
XM_011536147.2:c.1312-129G>A | XP_011534449.1:n.1312-129G>A | |
XM_011536148.2:c.1111-129G>A | XP_011534450.1:n.1111-129G>A | |
NM_025059.4:c.1294-129G>A MANE Select | NP_079335.2:n.1294-129G>A |