HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624096A>C , CM000679.2:g.41624096A>C | GRCh38 |
NC_000017.10:g.39780348A>C , CM000679.1:g.39780348A>C | GRCh37 |
NC_000017.9:g.37033874A>C | NCBI36 |
NG_008625.1:g.5535T>G | |
NG_009090.2:g.167617T>G , LRG_401:g.167617T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.414T>G MANE Select | ENSP00000308452.8:p.Ile138Met | |
ENST00000311208.12:c.414T>G | ENSP00000308452.8:p.Ile138Met | |
ENST00000463128.5:c.-202T>G | ENSP00000468672.1:n.-202T>G | |
ENST00000491673.1:n.480T>G | ||
ENST00000493253.5:n.201T>G | ||
ENST00000540235.5:c.165T>G | ENSP00000441751.2:p.Ile55Met | |
ENST00000577817.3:c.369T>G | ENSP00000467418.1:p.Ile123Met | |
NM_000422.2:c.414T>G | NP_000413.1:p.Ile138Met | |
NM_000422.3:c.414T>G MANE Select | NP_000413.1:p.Ile138Met |