HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898776C>T , CM000679.2:g.4898776C>T | GRCh38 |
NC_000017.10:g.4802071C>T , CM000679.1:g.4802071C>T | GRCh37 |
NC_000017.9:g.4742850C>T | NCBI36 |
NG_008029.2:g.9300G>A | |
NG_028005.1:g.70437C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.1442G>A MANE Select | ENSP00000497829.1:p.Arg481Gln | |
ENST00000649830.1:c.*78G>A | ENSP00000496907.1:n.*78G>A | |
ENST00000652550.1:n.1168G>A | ||
ENST00000293780.4:c.1442G>A | ENSP00000293780.4:p.Arg481Gln | |
ENST00000572438.1:n.1128G>A | ||
NM_000080.3:c.1442G>A | NP_000071.1:p.Arg481Gln | |
NM_000080.4:c.1442G>A MANE Select | NP_000071.1:p.Arg481Gln | |
XM_017024115.1:c.1406G>A | XP_016879604.1:p.Arg469Gln |