HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129822675T>A , CM000671.2:g.129822675T>A | GRCh38 |
NC_000009.11:g.132584954T>A , CM000671.1:g.132584954T>A | GRCh37 |
NC_000009.10:g.131624775T>A | NCBI36 |
NG_008049.1:g.6488A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.350A>T MANE Select | ENSP00000345719.4:p.Glu117Val | |
ENST00000651202.1:c.446A>T | ENSP00000498222.1:p.Glu149Val | |
ENST00000351698.4:c.350A>T | ENSP00000345719.4:p.Glu117Val | |
ENST00000473084.1:n.369A>T | ||
ENST00000473604.2:n.460A>T | ||
NM_000113.2:c.350A>T | NP_000104.1:p.Glu117Val | |
XR_929731.1:n.510A>T | ||
XR_929731.3:n.378A>T | ||
NM_000113.3:c.350A>T MANE Select | NP_000104.1:p.Glu117Val |