HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898755G>A , CM000679.2:g.4898755G>A | GRCh38 |
NC_000017.10:g.4802050G>A , CM000679.1:g.4802050G>A | GRCh37 |
NC_000017.9:g.4742829G>A | NCBI36 |
NG_008029.2:g.9321C>T | |
NG_028005.1:g.70416G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.1463C>T MANE Select | ENSP00000497829.1:p.Ala488Val | |
ENST00000649830.1:c.*99C>T | ENSP00000496907.1:n.*99C>T | |
ENST00000652550.1:n.1189C>T | ||
ENST00000293780.4:c.1463C>T | ENSP00000293780.4:p.Ala488Val | |
ENST00000572438.1:n.1149C>T | ||
NM_000080.3:c.1463C>T | NP_000071.1:p.Ala488Val | |
NM_000080.4:c.1463C>T MANE Select | NP_000071.1:p.Ala488Val | |
XM_017024115.1:c.1427C>T | XP_016879604.1:p.Ala476Val |