HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833806A>G , CM000686.2:g.12833806A>G | GRCh38 |
NC_000024.9:g.14945732A>G , CM000686.1:g.14945732A>G | GRCh37 |
NC_000024.8:g.13455126A>G | NCBI36 |
NG_008311.1:g.137573A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000651177.1:c.5140A>G | ENSP00000498372.1:p.Lys1714Glu | |
ENST00000338981.7:c.5140A>G MANE Select | ENSP00000342812.3:p.Lys1714Glu | |
ENST00000426564.6:n.5152A>G | ||
NM_004654.3:c.5140A>G | NP_004645.2:p.Lys1714Glu | |
XM_011531469.1:c.5140A>G | XP_011529771.1:p.Lys1714Glu | |
XM_011531470.1:c.4906A>G | XP_011529772.1:p.Lys1636Glu | |
XM_017030078.2:c.5155A>G | XP_016885567.1:p.Lys1719Glu | |
NM_004654.4:c.5140A>G MANE Select | NP_004645.2:p.Lys1714Glu |