HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15930516T>G , CM000663.2:g.15930516T>G | GRCh38 |
NC_000001.10:g.16257011T>G , CM000663.1:g.16257011T>G | GRCh37 |
NC_000001.9:g.16129598T>G | NCBI36 |
NG_050663.1:g.87653T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000438066.2:c.*5127T>G | ENSP00000388021.2:n.*5127T>G | |
ENST00000375759.8:c.4276T>G MANE Select | ENSP00000364912.3:p.Leu1426Val | |
ENST00000375759.7:c.4276T>G | ENSP00000364912.3:p.Leu1426Val | |
NM_015001.2:c.4276T>G | NP_055816.2:p.Leu1426Val | |
NM_015001.3:c.4276T>G MANE Select | NP_055816.2:p.Leu1426Val |