HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155463232G>T , CM000669.2:g.155463232G>T | GRCh38 |
NC_000007.13:g.155255927G>T , CM000669.1:g.155255927G>T | GRCh37 |
NC_000007.12:g.154948688G>T | NCBI36 |
NG_007124.1:g.11513G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297375.4:c.*545G>T MANE Select | ENSP00000297375.4:n.*545G>T | |
NM_001427.3:c.*545G>T | NP_001418.2:n.*545G>T | |
NM_001427.4:c.*545G>T MANE Select | NP_001418.2:n.*545G>T |