HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045791dup , CM000675.2:g.48045791dup | GRCh38 |
NC_000013.10:g.48619927dup , CM000675.1:g.48619927dup | GRCh37 |
NC_000013.9:g.47517928dup | NCBI36 |
NG_047021.1:g.13225dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.487dup MANE Select | ENSP00000258662.1:p.His163ProfsTer21 | |
ENST00000258662.2:c.487dup | ENSP00000258662.1:p.His163ProfsTer21 | |
NM_018283.2:c.487dup | NP_060753.1:p.His163ProfsTer21 | |
NM_018283.3:c.487dup | NP_060753.1:p.His163ProfsTer21 | |
NR_136687.1:n.667dup | ||
NR_136688.1:n.667dup | ||
NM_018283.4:c.487dup MANE Select | NP_060753.1:p.His163ProfsTer21 | |
NR_136687.2:n.508dup | ||
NR_136688.2:n.508dup |