HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304518C>T , CM000685.2:g.30304518C>T | GRCh38 |
NC_000023.10:g.30322635C>T , CM000685.1:g.30322635C>T | GRCh37 |
NC_000023.9:g.30232556C>T | NCBI36 |
NG_009814.1:g.9861G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.*61G>A MANE Select | ENSP00000368253.4:n.*61G>A | |
ENST00000378970.4:c.*61G>A | ENSP00000368253.4:n.*61G>A | |
NM_000475.4:c.*61G>A | NP_000466.2:n.*61G>A | |
NM_000475.5:c.*61G>A MANE Select | NP_000466.2:n.*61G>A |