HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624107A>T , CM000679.2:g.41624107A>T | GRCh38 |
NC_000017.10:g.39780359A>T , CM000679.1:g.39780359A>T | GRCh37 |
NC_000017.9:g.37033885A>T | NCBI36 |
NG_008625.1:g.5524T>A | |
NG_009090.2:g.167606T>A , LRG_401:g.167606T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.403T>A MANE Select | ENSP00000308452.8:p.Tyr135Asn | |
ENST00000311208.12:c.403T>A | ENSP00000308452.8:p.Tyr135Asn | |
ENST00000463128.5:c.-213T>A | ENSP00000468672.1:n.-213T>A | |
ENST00000491673.1:n.469T>A | ||
ENST00000493253.5:n.190T>A | ||
ENST00000540235.5:c.154T>A | ENSP00000441751.2:p.Tyr52Asn | |
ENST00000577817.3:c.358T>A | ENSP00000467418.1:p.Tyr120Asn | |
NM_000422.2:c.403T>A | NP_000413.1:p.Tyr135Asn | |
NM_000422.3:c.403T>A MANE Select | NP_000413.1:p.Tyr135Asn |