HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8012145T>G , CM000679.2:g.8012145T>G | GRCh38 |
NC_000017.10:g.7915463T>G , CM000679.1:g.7915463T>G | GRCh37 |
NC_000017.9:g.7856188T>G | NCBI36 |
NG_009092.1:g.14476T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254854.5:c.1751T>G MANE Select | ENSP00000254854.4:p.Leu584Arg | |
ENST00000254854.4:c.1751T>G | ENSP00000254854.4:p.Leu584Arg | |
NM_000180.3:c.1751T>G | NP_000171.1:p.Leu584Arg | |
XM_011523816.1:c.1751T>G | XP_011522118.1:p.Leu584Arg | |
NM_000180.4:c.1751T>G MANE Select | NP_000171.1:p.Leu584Arg |