HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19966777_19966778dup , CM000670.2:g.19966777_19966778dup | GRCh38 |
NC_000008.10:g.19824288_19824289dup , CM000670.1:g.19824288_19824289dup | GRCh37 |
NC_000008.9:g.19868568_19868569dup | NCBI36 |
NG_008855.1:g.32707_32708dup | |
NG_008855.2:g.70061_70062dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.*1467_*1468dup MANE Select | ENSP00000497642.1:n.*1467_*1468dup | |
ENST00000650478.1:c.1835_1836dup | ENSP00000497560.1:n.1835_1836dup | |
ENST00000311322.8:c.*1467_*1468dup | ENSP00000309757.6:n.*1467_*1468dup | |
NM_000237.2:c.*1467_*1468dup | NP_000228.1:n.*1467_*1468dup | |
NM_000237.3:c.*1467_*1468dup MANE Select | NP_000228.1:n.*1467_*1468dup |