HGVS | Genome Assembly |
---|---|
NC_000012.12:g.108250218_108250219dup , CM000674.2:g.108250218_108250219dup | GRCh38 |
NC_000012.11:g.108643995_108643996dup , CM000674.1:g.108643995_108643996dup | GRCh37 |
NC_000012.10:g.107168125_107168126dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000547525.6:c.*1875_*1876dup MANE Select | ENSP00000448047.1:n.*1875_*1876dup | |
ENST00000332082.8:c.*1875_*1876dup | ENSP00000331933.4:n.*1875_*1876dup | |
NM_001304447.1:c.*1875_*1876dup | NP_001291376.1:n.*1875_*1876dup | |
NM_014653.3:c.*1875_*1876dup | NP_055468.2:n.*1875_*1876dup | |
NM_014653.4:c.*1875_*1876dup MANE Select | NP_055468.2:n.*1875_*1876dup | |
NM_001304447.2:c.*1875_*1876dup | NP_001291376.1:n.*1875_*1876dup |