HGVS | Genome Assembly |
---|---|
NC_000007.14:g.155463238A>G , CM000669.2:g.155463238A>G | GRCh38 |
NC_000007.13:g.155255933A>G , CM000669.1:g.155255933A>G | GRCh37 |
NC_000007.12:g.154948694A>G | NCBI36 |
NG_007124.1:g.11519A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297375.4:c.*551A>G MANE Select | ENSP00000297375.4:n.*551A>G | |
NM_001427.3:c.*551A>G | NP_001418.2:n.*551A>G | |
NM_001427.4:c.*551A>G MANE Select | NP_001418.2:n.*551A>G |