HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151003936C>A , CM000669.2:g.151003936C>A | GRCh38 |
NC_000007.13:g.150701024C>A , CM000669.1:g.150701024C>A | GRCh37 |
NC_000007.12:g.150331957C>A | NCBI36 |
NG_011992.1:g.17878C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.1752+1632C>A MANE Select | ENSP00000297494.3:n.1752+1632C>A | |
ENST00000297494.7:c.1752+1632C>A | ENSP00000297494.3:n.1752+1632C>A | |
ENST00000461406.5:c.1134+1632C>A | ENSP00000417143.1:n.1134+1632C>A | |
NM_000603.4:c.1752+1632C>A | NP_000594.2:n.1752+1632C>A | |
XM_006716002.2:c.1752+1632C>A | XP_006716065.1:n.1752+1632C>A | |
NM_000603.5:c.1752+1632C>A MANE Select | NP_000594.2:n.1752+1632C>A | |
NM_001160109.2:c.*241C>A | NP_001153581.1:n.*241C>A |