HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898747T>C , CM000679.2:g.4898747T>C | GRCh38 |
NC_000017.10:g.4802042T>C , CM000679.1:g.4802042T>C | GRCh37 |
NC_000017.9:g.4742821T>C | NCBI36 |
NG_008029.2:g.9329A>G | |
NG_028005.1:g.70408T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.1471A>G MANE Select | ENSP00000497829.1:p.Ile491Val | |
ENST00000649830.1:c.*107A>G | ENSP00000496907.1:n.*107A>G | |
ENST00000652550.1:n.1197A>G | ||
ENST00000293780.4:c.1471A>G | ENSP00000293780.4:p.Ile491Val | |
ENST00000572438.1:n.1157A>G | ||
NM_000080.3:c.1471A>G | NP_000071.1:p.Ile491Val | |
NM_000080.4:c.1471A>G MANE Select | NP_000071.1:p.Ile491Val | |
XM_017024115.1:c.1435A>G | XP_016879604.1:p.Ile479Val |