HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151003858C>A , CM000669.2:g.151003858C>A | GRCh38 |
NC_000007.13:g.150700946C>A , CM000669.1:g.150700946C>A | GRCh37 |
NC_000007.12:g.150331879C>A | NCBI36 |
NG_011992.1:g.17800C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.1752+1554C>A MANE Select | ENSP00000297494.3:n.1752+1554C>A | |
ENST00000297494.7:c.1752+1554C>A | ENSP00000297494.3:n.1752+1554C>A | |
ENST00000461406.5:c.1134+1554C>A | ENSP00000417143.1:n.1134+1554C>A | |
ENST00000467517.1:c.2300C>A | ENSP00000420551.1:n.2300C>A | |
ENST00000484524.5:c.2460C>A | ENSP00000420215.1:n.2460C>A | |
NM_000603.4:c.1752+1554C>A | NP_000594.2:n.1752+1554C>A | |
NM_001160109.1:c.1954C>A | NP_001153581.1:n.1954C>A | |
NM_001160110.1:c.2300C>A | NP_001153582.1:n.2300C>A | |
NM_001160111.1:c.2460C>A | NP_001153583.1:n.2460C>A | |
XM_006716002.2:c.1752+1554C>A | XP_006716065.1:n.1752+1554C>A | |
NM_000603.5:c.1752+1554C>A MANE Select | NP_000594.2:n.1752+1554C>A | |
NM_001160109.2:c.*163C>A | NP_001153581.1:n.*163C>A |