HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119672278dup , CM000672.2:g.119672278dup | GRCh38 |
NC_000010.10:g.121431790dup , CM000672.1:g.121431790dup | GRCh37 |
NC_000010.9:g.121421780dup | NCBI36 |
NG_016125.1:g.25909dup , LRG_742:g.25909dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369085.8:c.531dup MANE Select | ENSP00000358081.4:p.Asp178Ter | |
ENST00000369085.7:c.531dup | ENSP00000358081.3:p.Asp178Ter | |
ENST00000450186.1:c.357dup | ENSP00000410036.1:p.Asp120Ter | |
NM_004281.3:c.531dup , LRG_742t1:c.531dup | NP_004272.2:p.Asp178Ter | |
XM_005270287.1:c.531dup | XP_005270344.1:p.Asp178Ter | |
XM_005270287.2:c.531dup | XP_005270344.1:p.Asp178Ter | |
NM_004281.4:c.531dup MANE Select | NP_004272.2:p.Asp178Ter |