HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155463323G>C , CM000669.2:g.155463323G>C | GRCh38 |
NC_000007.13:g.155256018G>C , CM000669.1:g.155256018G>C | GRCh37 |
NC_000007.12:g.154948779G>C | NCBI36 |
NG_007124.1:g.11604G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297375.4:c.*636G>C MANE Select | ENSP00000297375.4:n.*636G>C | |
NM_001427.3:c.*636G>C | NP_001418.2:n.*636G>C | |
NM_001427.4:c.*636G>C MANE Select | NP_001418.2:n.*636G>C |