HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218814045C>T , CM000664.2:g.218814045C>T | GRCh38 |
NC_000002.11:g.219678768C>T , CM000664.1:g.219678768C>T | GRCh37 |
NC_000002.10:g.219387012C>T | NCBI36 |
NG_007959.1:g.37297C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1042C>T MANE Select | ENSP00000258415.4:p.Leu348= | |
ENST00000258415.8:c.1042C>T | ENSP00000258415.4:p.Leu348= | |
ENST00000445971.1:c.*503C>T | ENSP00000404945.1:n.*503C>T | |
ENST00000466602.1:n.1164C>T | ||
ENST00000494263.5:n.1476C>T | ||
NM_000784.3:c.1042C>T | NP_000775.1:p.Leu348= | |
XM_017003488.2:c.622C>T | XP_016858977.1:p.Leu208= | |
NM_000784.4:c.1042C>T MANE Select | NP_000775.1:p.Leu348= |