HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40843651_40843661dup , CM000681.2:g.40843651_40843661dup | GRCh38 |
NC_000019.9:g.41349556_41349566dup , CM000681.1:g.41349556_41349566dup | GRCh37 |
NC_000019.8:g.46041396_46041406dup | NCBI36 |
NG_008377.1:g.11790_11800dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301141.10:c.*138_*148dup MANE Select | ENSP00000301141.4:n.*138_*148dup | |
ENST00000301141.9:c.*138_*148dup | ENSP00000301141.4:n.*138_*148dup | |
ENST00000599960.1:n.542_552dup | ||
ENST00000601627.1:c.119+42236_119+42246dup | ||
NM_000762.5:c.*138_*148dup | NP_000753.3:n.*138_*148dup | |
NM_000762.6:c.*138_*148dup MANE Select | NP_000753.3:n.*138_*148dup |