HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981766C= , CM000674.2:g.48981766C= | GRCh38 |
NC_000012.11:g.49375549C= , CM000674.1:g.49375549C= | GRCh37 |
NC_000012.10:g.47661816C= | NCBI36 |
NG_033141.1:g.8314C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*126C= MANE Select | ENSP00000293549.3:n.*126C= | |
NM_005430.3:c.*126C= | NP_005421.1:n.*126C= | |
NM_005430.4:c.*126C= MANE Select | NP_005421.1:n.*126C= |