HGVS | Genome Assembly |
---|---|
NC_000006.12:g.151615699T>A , CM000668.2:g.151615699T>A | GRCh38 |
NC_000006.11:g.151936834T>A , CM000668.1:g.151936834T>A | GRCh37 |
NC_000006.10:g.151978527T>A | NCBI36 |
NG_021198.1:g.126660T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239374.8:c.1947+20T>A MANE Select | ENSP00000239374.6:n.1947+20T>A | |
ENST00000239374.7:c.1947+20T>A | ENSP00000239374.6:n.1947+20T>A | |
NM_025059.3:c.1947+20T>A | NP_079335.2:n.1947+20T>A | |
XM_011536147.1:c.1965+20T>A | XP_011534449.1:n.1965+20T>A | |
XM_011536148.1:c.1764+20T>A | XP_011534450.1:n.1764+20T>A | |
XM_011536147.2:c.1965+20T>A | XP_011534449.1:n.1965+20T>A | |
XM_011536148.2:c.1764+20T>A | XP_011534450.1:n.1764+20T>A | |
XR_001743865.1:n.129+1022A>T | ||
NM_025059.4:c.1947+20T>A MANE Select | NP_079335.2:n.1947+20T>A |