HGVS | Genome Assembly |
---|---|
NC_000008.11:g.6870605C>A , CM000670.2:g.6870605C>A | GRCh38 |
NC_000008.10:g.6728127C>A , CM000670.1:g.6728127C>A | GRCh37 |
NC_000008.9:g.6715537C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297439.4:c.*76G>T MANE Select | ENSP00000297439.3:n.*76G>T | |
ENST00000297439.3:c.*76G>T | ENSP00000297439.3:n.*76G>T | |
NM_005218.3:c.*76G>T | NP_005209.1:n.*76G>T | |
NM_005218.4:c.*76G>T MANE Select | NP_005209.1:n.*76G>T |