HGVS | Genome Assembly |
---|---|
NC_000015.10:g.65029576A>C , CM000677.2:g.65029576A>C | GRCh38 |
NC_000015.9:g.65321914A>C , CM000677.1:g.65321914A>C | GRCh37 |
NC_000015.8:g.63108967A>C | NCBI36 |
NG_029184.1:g.5064T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000220058.9:c.38T>G MANE Select | ENSP00000220058.4:p.Leu13Arg | |
ENST00000220058.8:c.38T>G | ENSP00000220058.4:p.Leu13Arg | |
ENST00000543678.1:c.38T>G | ENSP00000443754.1:p.Leu13Arg | |
ENST00000558460.5:c.38T>G | ENSP00000452646.1:p.Leu13Arg | |
ENST00000560717.5:c.23T>G | ENSP00000457257.1:p.Leu8Arg | |
NM_139242.3:c.38T>G | NP_640335.2:p.Leu13Arg | |
XM_005254158.5:c.38T>G | XP_005254215.2:p.Leu13Arg | |
XR_001751081.1:n.53T>G | ||
NM_139242.4:c.38T>G MANE Select | NP_640335.2:p.Leu13Arg |