HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624485T>A , CM000679.2:g.41624485T>A | GRCh38 |
NC_000017.10:g.39780737T>A , CM000679.1:g.39780737T>A | GRCh37 |
NC_000017.9:g.37034263T>A | NCBI36 |
NG_008625.1:g.5146A>T | |
NG_009090.2:g.167228A>T , LRG_401:g.167228A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.25A>T MANE Select | ENSP00000308452.8:p.Thr9Ser | |
ENST00000311208.12:c.25A>T | ENSP00000308452.8:p.Thr9Ser | |
ENST00000463128.5:c.-313+258A>T | ENSP00000468672.1:n.-313+258A>T | |
ENST00000491673.1:n.91A>T | ||
ENST00000540235.5:c.-181A>T | ENSP00000441751.2:n.-181A>T | |
NM_000422.2:c.25A>T | NP_000413.1:p.Thr9Ser | |
NM_000422.3:c.25A>T MANE Select | NP_000413.1:p.Thr9Ser |