HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154969393dup , CM000685.2:g.154969393dup | GRCh38 |
NC_000023.10:g.154197668dup , CM000685.1:g.154197668dup | GRCh37 |
NC_000023.9:g.153850862dup | NCBI36 |
NG_011403.1:g.58333dup | |
NG_011403.2:g.58333dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.949dup MANE Select | ENSP00000353393.4:p.Thr317AsnfsTer21 | |
ENST00000647125.1:c.*825dup | ENSP00000496062.1:n.*825dup | |
ENST00000360256.8:c.949dup | ENSP00000353393.4:p.Thr317AsnfsTer21 | |
NM_000132.3:c.949dup | NP_000123.1:p.Thr317AsnfsTer21 | |
XM_011531126.1:c.844dup | XP_011529428.1:p.Thr282AsnfsTer21 | |
NM_000132.4:c.949dup MANE Select | NP_000123.1:p.Thr317AsnfsTer21 |