HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94417809T>G , CM000669.2:g.94417809T>G | GRCh38 |
NC_000007.13:g.94047121T>G , CM000669.1:g.94047121T>G | GRCh37 |
NC_000007.12:g.93885057T>G | NCBI36 |
NG_007405.1:g.28249T>G , LRG_2:g.28249T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1949T>G MANE Select | ENSP00000297268.6:p.Ile650Arg | |
ENST00000297268.10:c.1949T>G | ENSP00000297268.6:p.Ile650Arg | |
ENST00000461525.5:n.38T>G | ||
ENST00000473573.5:n.286T>G | ||
ENST00000497316.5:n.346T>G | ||
ENST00000620463.1:c.1943T>G | ENSP00000477719.1:p.Ile648Arg | |
NM_000089.3:c.1949T>G , LRG_2t1:c.1949T>G | NP_000080.2:p.Ile650Arg | |
NM_000089.4:c.1949T>G MANE Select | NP_000080.2:p.Ile650Arg |