HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73447881C>A , CM000666.2:g.73447881C>A | GRCh38 |
NC_000004.11:g.74313598C>A , CM000666.1:g.74313598C>A | GRCh37 |
NC_000004.10:g.74532462C>A | NCBI36 |
NG_023028.1:g.16666C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395792.7:c.1058+205C>A MANE Select | ENSP00000379138.2:n.1058+205C>A | |
ENST00000226359.2:c.1058+205C>A | ENSP00000226359.2:n.1058+205C>A | |
ENST00000395792.6:c.1058+205C>A | ENSP00000379138.2:n.1058+205C>A | |
NM_001134.2:c.1058+205C>A | NP_001125.1:n.1058+205C>A | |
XM_011531704.1:c.1055+205C>A | XP_011530006.1:n.1055+205C>A | |
NM_001354717.1:c.584+205C>A | NP_001341646.1:n.584+205C>A | |
NM_001134.3:c.1058+205C>A MANE Select | NP_001125.1:n.1058+205C>A | |
NM_001354717.2:c.584+205C>A | NP_001341646.2:n.584+205C>A |