HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240878732C>T , CM000664.2:g.240878732C>T | GRCh38 |
NC_000002.11:g.241818149C>T , CM000664.1:g.241818149C>T | GRCh37 |
NC_000002.10:g.241466822C>T | NCBI36 |
NG_008005.1:g.14988C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.1090C>T MANE Select | ENSP00000302620.3:p.Leu364= | |
ENST00000307503.3:c.1090C>T | ENSP00000302620.3:p.Leu364= | |
ENST00000470255.1:n.868C>T | ||
NM_000030.2:c.1090C>T | NP_000021.1:p.Leu364= | |
NM_000030.3:c.1090C>T MANE Select | NP_000021.1:p.Leu364= |