HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186208861T>A , CM000666.2:g.186208861T>A | GRCh38 |
NC_000004.11:g.187130015T>A , CM000666.1:g.187130015T>A | GRCh37 |
NC_000004.10:g.187367009T>A | NCBI36 |
NG_007965.1:g.22342T>A | |
NG_012095.2:g.4883T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378802.5:c.1091-4T>A MANE Select | ENSP00000368079.4:n.1091-4T>A | |
ENST00000378802.4:c.1091-4T>A | ENSP00000368079.4:n.1091-4T>A | |
ENST00000502665.1:n.326-4T>A | ||
ENST00000507209.5:n.5789-4T>A | ||
ENST00000513354.5:n.181-4T>A | ||
NM_207352.3:c.1091-4T>A | NP_997235.3:n.1091-4T>A | |
XM_005262935.2:c.1091-4T>A | XP_005262992.1:n.1091-4T>A | |
XM_006714184.2:c.695-4T>A | XP_006714247.1:n.695-4T>A | |
XM_005262935.4:c.1091-4T>A | XP_005262992.1:n.1091-4T>A | |
XM_017008037.1:c.695-4T>A | XP_016863526.1:n.695-4T>A | |
NM_207352.4:c.1091-4T>A MANE Select | NP_997235.3:n.1091-4T>A |