HGVS | Genome Assembly |
---|---|
NC_000020.11:g.46010962C>T , CM000682.2:g.46010962C>T | GRCh38 |
NC_000020.10:g.44639601C>T , CM000682.1:g.44639601C>T | GRCh37 |
NC_000020.9:g.44073008C>T | NCBI36 |
NG_011468.1:g.7055C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372330.3:c.561C>T MANE Select | ENSP00000361405.3:p.Leu187= | |
NM_004994.2:c.561C>T | NP_004985.2:p.Leu187= | |
NM_004994.3:c.561C>T MANE Select | NP_004985.2:p.Leu187= |