HGVS | Genome Assembly |
---|---|
NC_000004.12:g.73455850C>A , CM000666.2:g.73455850C>A | GRCh38 |
NC_000004.11:g.74321567C>A , CM000666.1:g.74321567C>A | GRCh37 |
NC_000004.10:g.74540431C>A | NCBI36 |
NG_023028.1:g.24635C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395792.7:c.*230C>A MANE Select | ENSP00000379138.2:n.*230C>A | |
ENST00000395792.6:c.*230C>A | ENSP00000379138.2:n.*230C>A | |
NM_001134.3:c.*230C>A MANE Select | NP_001125.1:n.*230C>A | |
NM_001354717.2:c.*230C>A | NP_001341646.2:n.*230C>A |