HGVS | Genome Assembly |
---|---|
NC_000007.14:g.45913550C>A , CM000669.2:g.45913550C>A | GRCh38 |
NC_000007.13:g.45953149C>A , CM000669.1:g.45953149C>A | GRCh37 |
NC_000007.12:g.45919674C>A | NCBI36 |
NG_011508.1:g.12723G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000613132.5:c.*300G>T MANE Select | ENSP00000477772.2:n.*300G>T | |
ENST00000381083.9:c.*300G>T | ENSP00000370473.4:n.*300G>T | |
ENST00000275521.10:c.*300G>T | ENSP00000275521.5:n.*300G>T | |
ENST00000381086.9:c.*300G>T | ENSP00000370476.4:n.*300G>T | |
ENST00000613132.4:c.1113G>T | ENSP00000477772.1:n.1113G>T | |
NM_000598.4:c.*300G>T | NP_000589.2:n.*300G>T | |
NM_001013398.1:c.*300G>T | NP_001013416.1:n.*300G>T | |
NM_001013398.2:c.*300G>T | NP_001013416.1:n.*300G>T | |
NM_000598.5:c.*300G>T MANE Select | NP_000589.2:n.*300G>T |