HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4898759dup , CM000679.2:g.4898759dup | GRCh38 |
NC_000017.10:g.4802054dup , CM000679.1:g.4802054dup | GRCh37 |
NC_000017.9:g.4742833dup | NCBI36 |
NG_008029.2:g.9317dup | |
NG_028005.1:g.70420dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649488.2:c.1459dup MANE Select | ENSP00000497829.1:p.Tyr487LeufsTer28 | |
ENST00000649830.1:c.*95dup | ENSP00000496907.1:n.*95dup | |
ENST00000652550.1:n.1185dup | ||
ENST00000293780.4:c.1459dup | ENSP00000293780.4:p.Tyr487LeufsTer28 | |
ENST00000572438.1:n.1145dup | ||
NM_000080.3:c.1459dup | NP_000071.1:p.Tyr487LeufsTer28 | |
NM_000080.4:c.1459dup MANE Select | NP_000071.1:p.Tyr487LeufsTer28 | |
XM_017024115.1:c.1423dup | XP_016879604.1:p.Tyr475LeufsTer28 |