HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154997057dup , CM000685.2:g.154997057dup | GRCh38 |
NC_000023.10:g.154225332dup , CM000685.1:g.154225332dup | GRCh37 |
NC_000023.9:g.153878526dup | NCBI36 |
NG_011403.1:g.30667dup | |
NG_011403.2:g.30667dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.304dup MANE Select | ENSP00000353393.4:p.Thr102AsnfsTer7 | |
ENST00000647125.1:c.*90dup | ENSP00000496062.1:n.*90dup | |
ENST00000360256.8:c.304dup | ENSP00000353393.4:p.Thr102AsnfsTer7 | |
ENST00000423959.5:c.199dup | ENSP00000409446.1:p.Thr67AsnfsTer7 | |
ENST00000453950.1:c.286dup | ENSP00000389153.1:p.Thr96AsnfsTer7 | |
NM_000132.3:c.304dup | NP_000123.1:p.Thr102AsnfsTer7 | |
XM_011531126.1:c.199dup | XP_011529428.1:p.Thr67AsnfsTer7 | |
NM_000132.4:c.304dup MANE Select | NP_000123.1:p.Thr102AsnfsTer7 |