HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43048412T>G , CM000677.2:g.43048412T>G | GRCh38 |
NC_000015.9:g.43340610T>G , CM000677.1:g.43340610T>G | GRCh37 |
NC_000015.8:g.41127902T>G | NCBI36 |
NG_012182.1:g.62677A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290650.9:c.1519A>C MANE Select | ENSP00000290650.4:p.Lys507Gln | |
ENST00000290650.8:c.1519A>C | ENSP00000290650.4:p.Lys507Gln | |
ENST00000546274.6:c.1519A>C | ENSP00000477932.1:p.Lys507Gln | |
ENST00000563239.1:c.*203-1123A>C | ENSP00000456502.1:n.*203-1123A>C | |
ENST00000569971.5:c.390A>C | ENSP00000455759.1:n.390A>C | |
NM_174916.2:c.1519A>C | NP_777576.1:p.Lys507Gln | |
NM_174916.3:c.1519A>C MANE Select | NP_777576.1:p.Lys507Gln |