HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218812591T>G , CM000664.2:g.218812591T>G | GRCh38 |
NC_000002.11:g.219677314T>G , CM000664.1:g.219677314T>G | GRCh37 |
NC_000002.10:g.219385558T>G | NCBI36 |
NG_007959.1:g.35843T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258415.9:c.686T>G MANE Select | ENSP00000258415.4:p.Leu229Arg | |
ENST00000258415.8:c.686T>G | ENSP00000258415.4:p.Leu229Arg | |
ENST00000411688.1:c.404T>G | ENSP00000392671.1:p.Leu135Arg | |
ENST00000445971.1:c.*147T>G | ENSP00000404945.1:n.*147T>G | |
ENST00000466602.1:n.634T>G | ||
ENST00000494263.5:n.1120T>G | ||
NM_000784.3:c.686T>G | NP_000775.1:p.Leu229Arg | |
XM_017003488.2:c.266T>G | XP_016858977.1:p.Leu89Arg | |
NM_000784.4:c.686T>G MANE Select | NP_000775.1:p.Leu229Arg |