HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1985946G>T , CM000678.2:g.1985946G>T | GRCh38 |
NC_000016.9:g.2035947G>T , CM000678.1:g.2035947G>T | GRCh37 |
NC_000016.8:g.1975948G>T | NCBI36 |
NG_016288.1:g.6798G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.311G>T | ENSP00000455885.1:p.Arg104Leu | |
ENST00000248114.7:c.536G>T MANE Select | ENSP00000248114.6:p.Arg179Leu | |
ENST00000248114.6:c.536G>T | ENSP00000248114.6:p.Arg179Leu | |
ENST00000565658.1:n.693G>T | ||
ENST00000567719.1:c.311G>T | ENSP00000455885.1:p.Arg104Leu | |
ENST00000569451.1:c.*9G>T | ENSP00000456432.1:n.*9G>T | |
NM_005262.2:c.536G>T | NP_005253.3:p.Arg179Leu | |
NM_005262.3:c.536G>T MANE Select | NP_005253.3:p.Arg179Leu |