HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218814034T>G , CM000664.2:g.218814034T>G | GRCh38 |
NC_000002.11:g.219678757T>G , CM000664.1:g.219678757T>G | GRCh37 |
NC_000002.10:g.219387001T>G | NCBI36 |
NG_007959.1:g.37286T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1031T>G MANE Select | ENSP00000258415.4:p.Leu344Arg | |
ENST00000258415.8:c.1031T>G | ENSP00000258415.4:p.Leu344Arg | |
ENST00000445971.1:c.*492T>G | ENSP00000404945.1:n.*492T>G | |
ENST00000466602.1:n.1153T>G | ||
ENST00000494263.5:n.1465T>G | ||
NM_000784.3:c.1031T>G | NP_000775.1:p.Leu344Arg | |
XM_017003488.2:c.611T>G | XP_016858977.1:p.Leu204Arg | |
NM_000784.4:c.1031T>G MANE Select | NP_000775.1:p.Leu344Arg |