HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739714_120739715dup , CM000674.2:g.120739714_120739715dup | GRCh38 |
NC_000012.11:g.121177517_121177518dup , CM000674.1:g.121177517_121177518dup | GRCh37 |
NC_000012.10:g.119661900_119661901dup | NCBI36 |
NG_007991.1:g.18947_18948dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*266_*267dup MANE Select | ENSP00000242592.4:n.*266_*267dup | |
ENST00000242592.8:c.*266_*267dup | ENSP00000242592.4:n.*266_*267dup | |
NM_000017.3:c.*266_*267dup | NP_000008.1:n.*266_*267dup | |
NM_001302554.1:c.*266_*267dup | NP_001289483.1:n.*266_*267dup | |
NM_000017.4:c.*266_*267dup MANE Select | NP_000008.1:n.*266_*267dup | |
NM_001302554.2:c.*266_*267dup | NP_001289483.1:n.*266_*267dup |