HGVS | Genome Assembly |
---|---|
NC_000010.11:g.119676621dup , CM000672.2:g.119676621dup | GRCh38 |
NC_000010.10:g.121436133dup , CM000672.1:g.121436133dup | GRCh37 |
NC_000010.9:g.121426123dup | NCBI36 |
NG_016125.1:g.30252dup , LRG_742:g.30252dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369085.8:c.1067dup MANE Select | ENSP00000358081.4:p.Pro357ThrfsTer4 | |
ENST00000369085.7:c.1067dup | ENSP00000358081.3:p.Pro357ThrfsTer4 | |
ENST00000450186.1:c.890dup | ENSP00000410036.1:p.Pro298ThrfsTer4 | |
NM_004281.3:c.1067dup , LRG_742t1:c.1067dup | NP_004272.2:p.Pro357ThrfsTer4 | |
XM_005270287.1:c.1064dup | XP_005270344.1:p.Pro356ThrfsTer4 | |
XM_005270287.2:c.1064dup | XP_005270344.1:p.Pro356ThrfsTer4 | |
NM_004281.4:c.1067dup MANE Select | NP_004272.2:p.Pro357ThrfsTer4 |