HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818847T>A , CM000671.2:g.129818847T>A | GRCh38 |
NC_000009.11:g.132581126T>A , CM000671.1:g.132581126T>A | GRCh37 |
NC_000009.10:g.131620947T>A | NCBI36 |
NG_008049.1:g.10316A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.518A>T MANE Select | ENSP00000345719.4:p.Asp173Val | |
ENST00000651202.1:c.614A>T | ENSP00000498222.1:p.Asp205Val | |
ENST00000351698.4:c.518A>T | ENSP00000345719.4:p.Asp173Val | |
ENST00000473604.2:n.628A>T | ||
NM_000113.2:c.518A>T | NP_000104.1:p.Asp173Val | |
XR_929731.1:n.678A>T | ||
XR_929731.3:n.546A>T | ||
NM_000113.3:c.518A>T MANE Select | NP_000104.1:p.Asp173Val |