HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814301_129814303dup , CM000671.2:g.129814301_129814303dup | GRCh38 |
NC_000009.11:g.132576580_132576582dup , CM000671.1:g.132576580_132576582dup | GRCh37 |
NC_000009.10:g.131616401_131616403dup | NCBI36 |
NG_008049.1:g.14860_14862dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.749-81_749-79dup MANE Select | ENSP00000345719.4:n.749-81_749-79dup | |
ENST00000651202.1:c.*17-81_*17-79dup | ENSP00000498222.1:n.*17-81_*17-79dup | |
ENST00000351698.4:c.749-81_749-79dup | ENSP00000345719.4:n.749-81_749-79dup | |
ENST00000474192.1:n.333-81_333-79dup | ||
NM_000113.2:c.749-81_749-79dup | NP_000104.1:n.749-81_749-79dup | |
XR_929731.1:n.1076-81_1076-79dup | ||
XR_929731.3:n.944-81_944-79dup | ||
NM_000113.3:c.749-81_749-79dup MANE Select | NP_000104.1:n.749-81_749-79dup |