HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94417798T>G , CM000669.2:g.94417798T>G | GRCh38 |
NC_000007.13:g.94047110T>G , CM000669.1:g.94047110T>G | GRCh37 |
NC_000007.12:g.93885046T>G | NCBI36 |
NG_007405.1:g.28238T>G , LRG_2:g.28238T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000297268.11:c.1938T>G MANE Select | ENSP00000297268.6:p.Gly646= | |
ENST00000297268.10:c.1938T>G | ENSP00000297268.6:p.Gly646= | |
ENST00000461525.5:n.27T>G | ||
ENST00000473573.5:n.275T>G | ||
ENST00000497316.5:n.335T>G | ||
ENST00000620463.1:c.1932T>G | ENSP00000477719.1:p.Gly644= | |
NM_000089.3:c.1938T>G , LRG_2t1:c.1938T>G | NP_000080.2:p.Gly646= | |
NM_000089.4:c.1938T>G MANE Select | NP_000080.2:p.Gly646= |