HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43048415A>C , CM000677.2:g.43048415A>C | GRCh38 |
NC_000015.9:g.43340613A>C , CM000677.1:g.43340613A>C | GRCh37 |
NC_000015.8:g.41127905A>C | NCBI36 |
NG_012182.1:g.62674T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.1516T>G MANE Select | ENSP00000290650.4:p.Leu506Val | |
ENST00000290650.8:c.1516T>G | ENSP00000290650.4:p.Leu506Val | |
ENST00000546274.6:c.1516T>G | ENSP00000477932.1:p.Leu506Val | |
ENST00000563239.1:c.*203-1126T>G | ENSP00000456502.1:n.*203-1126T>G | |
ENST00000569971.5:c.387T>G | ENSP00000455759.1:n.387T>G | |
NM_174916.2:c.1516T>G | NP_777576.1:p.Leu506Val | |
NM_174916.3:c.1516T>G MANE Select | NP_777576.1:p.Leu506Val |