HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94422995G>T , CM000669.2:g.94422995G>T | GRCh38 |
NC_000007.13:g.94052307G>T , CM000669.1:g.94052307G>T | GRCh37 |
NC_000007.12:g.93890243G>T | NCBI36 |
NG_007405.1:g.33435G>T , LRG_2:g.33435G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2442G>T MANE Select | ENSP00000297268.6:p.Gly814= | |
ENST00000297268.10:c.2442G>T | ENSP00000297268.6:p.Gly814= | |
ENST00000481570.5:n.525G>T | ||
ENST00000497316.5:n.839G>T | ||
ENST00000620463.1:c.2436G>T | ENSP00000477719.1:p.Gly812= | |
NM_000089.3:c.2442G>T , LRG_2t1:c.2442G>T | NP_000080.2:p.Gly814= | |
NM_000089.4:c.2442G>T MANE Select | NP_000080.2:p.Gly814= |