HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218812926A>G , CM000664.2:g.218812926A>G | GRCh38 |
NC_000002.11:g.219677649A>G , CM000664.1:g.219677649A>G | GRCh37 |
NC_000002.10:g.219385893A>G | NCBI36 |
NG_007959.1:g.36178A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.847A>G MANE Select | ENSP00000258415.4:p.Lys283Glu | |
ENST00000258415.8:c.847A>G | ENSP00000258415.4:p.Lys283Glu | |
ENST00000411688.1:c.565A>G | ENSP00000392671.1:p.Lys189Glu | |
ENST00000445971.1:c.*308A>G | ENSP00000404945.1:n.*308A>G | |
ENST00000466602.1:n.969A>G | ||
ENST00000494263.5:n.1281A>G | ||
NM_000784.3:c.847A>G | NP_000775.1:p.Lys283Glu | |
XM_017003488.2:c.427A>G | XP_016858977.1:p.Lys143Glu | |
NM_000784.4:c.847A>G MANE Select | NP_000775.1:p.Lys283Glu |