HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1240410C>A , CM000673.2:g.1240410C>A | GRCh38 |
NC_000011.9:g.1261640C>A , CM000673.1:g.1261640C>A | GRCh37 |
NC_000011.8:g.1218216C>A | NCBI36 |
NG_031880.1:g.22346C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529681.5:c.3970+35C>A MANE Select | ENSP00000436812.1:n.3970+35C>A | |
NM_002458.2:c.3970+35C>A | NP_002449.2:n.3970+35C>A | |
NM_002458.3:c.3970+35C>A MANE Select | NP_002449.2:n.3970+35C>A |