HGVS | Genome Assembly |
---|---|
NC_000010.11:g.111079821A>G , CM000672.2:g.111079821A>G | GRCh38 |
NC_000010.10:g.112839579A>G , CM000672.1:g.112839579A>G | GRCh37 |
NC_000010.9:g.112829569A>G | NCBI36 |
NG_012020.1:g.7790A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000280155.4:c.*427A>G MANE Select | ENSP00000280155.2:n.*427A>G | |
ENST00000280155.3:c.*427A>G | ENSP00000280155.2:n.*427A>G | |
NM_000681.3:c.*427A>G | NP_000672.3:n.*427A>G | |
NM_000681.4:c.*427A>G MANE Select | NP_000672.3:n.*427A>G |