HGVS | Genome Assembly |
---|---|
NC_000023.11:g.9846095G>A , CM000685.2:g.9846095G>A | GRCh38 |
NC_000023.10:g.9814135G>A , CM000685.1:g.9814135G>A | GRCh37 |
NC_000023.9:g.9774135G>A | NCBI36 |
NG_012493.1:g.64640G>A | |
NG_012493.2:g.64640G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380913.8:c.166-27557G>A MANE Select | ENSP00000370299.3:n.166-27557G>A | |
ENST00000380913.7:c.166-27557G>A | ENSP00000370299.3:n.166-27557G>A | |
NM_001649.2:c.166-27557G>A | NP_001640.1:n.166-27557G>A | |
XM_005274500.3:c.166-27557G>A | XP_005274557.2:n.166-27557G>A | |
NM_001649.3:c.166-27557G>A | NP_001640.1:n.166-27557G>A | |
XM_005274500.4:c.166-27557G>A | XP_005274557.2:n.166-27557G>A | |
NM_001649.4:c.166-27557G>A MANE Select | NP_001640.1:n.166-27557G>A |