HGVS | Genome Assembly |
---|---|
NC_000011.10:g.73241451G>A , CM000673.2:g.73241451G>A | GRCh38 |
NC_000011.9:g.72952496G>A , CM000673.1:g.72952496G>A | GRCh37 |
NC_000011.8:g.72630144G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393597.7:c.*6158G>A MANE Select | ENSP00000377222.2:n.*6158G>A | |
NM_002564.3:c.*6158G>A | NP_002555.3:n.*6158G>A | |
NM_176071.2:c.*6158G>A | NP_788085.2:n.*6158G>A | |
NM_176072.2:c.*6158G>A | NP_788086.2:n.*6158G>A | |
XR_001747890.1:n.1934-1848G>A | ||
XR_001747891.1:n.1934-1848G>A | ||
XR_001747892.1:n.2346G>A | ||
NM_002564.4:c.*6158G>A MANE Select | NP_002555.4:n.*6158G>A | |
NM_176071.3:c.*6158G>A | NP_788085.3:n.*6158G>A | |
NM_176072.3:c.*6158G>A | NP_788086.3:n.*6158G>A |