HGVS | Genome Assembly |
---|---|
NC_000019.10:g.3926020_3926021dup , CM000681.2:g.3926020_3926021dup | GRCh38 |
NC_000019.9:g.3926018_3926019dup , CM000681.1:g.3926018_3926019dup | GRCh37 |
NC_000019.8:g.3877018_3877019dup | NCBI36 |
NG_012638.1:g.50401_50402dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450849.7:c.*1428_*1429dup MANE Select | ENSP00000390941.1:n.*1428_*1429dup | |
ENST00000450849.6:c.*1428_*1429dup | ENSP00000390941.1:n.*1428_*1429dup | |
ENST00000600960.1:c.2608_2609dup | ENSP00000470842.1:n.2608_2609dup | |
ENST00000601323.1:n.440-238_440-237dup | ||
NM_033064.4:c.*1428_*1429dup | NP_149053.1:n.*1428_*1429dup | |
NM_033064.5:c.*1428_*1429dup MANE Select | NP_149053.1:n.*1428_*1429dup |