HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21748642dup , CM000669.2:g.21748642dup | GRCh38 |
NC_000007.13:g.21788260dup , CM000669.1:g.21788260dup | GRCh37 |
NC_000007.12:g.21754785dup | NCBI36 |
NG_012886.2:g.210428dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.8573dup MANE Select | ENSP00000475939.1:p.Ser2859GlnfsTer17 | |
ENST00000328843.10:c.8594dup | ENSP00000330671.7:p.Ser2866GlnfsTer17 | |
ENST00000409508.7:c.8573dup | ENSP00000475939.1:p.Ser2859GlnfsTer17 | |
ENST00000620169.4:c.8594dup | ENSP00000481693.1:p.Ser2866GlnfsTer17 | |
NM_001277115.1:c.8573dup | NP_001264044.1:p.Ser2859GlnfsTer17 | |
NM_001277115.2:c.8573dup MANE Select | NP_001264044.1:p.Ser2859GlnfsTer17 |