HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022714dup , CM000663.2:g.17022714dup | GRCh38 |
NC_000001.10:g.17349209dup , CM000663.1:g.17349209dup | GRCh37 |
NC_000001.9:g.17221796dup | NCBI36 |
NG_012340.1:g.36458dup , LRG_316:g.36458dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.489dup | ENSP00000481376.2:p.Asp164Ter | |
ENST00000491274.6:c.618dup | ENSP00000480482.2:p.Asp207Ter | |
ENST00000375499.8:c.660dup MANE Select | ENSP00000364649.3:p.Asp221Ter | |
ENST00000375499.7:c.660dup | ENSP00000364649.3:p.Asp221Ter | |
ENST00000475049.5:n.85dup | ||
ENST00000485092.5:n.324dup | ||
ENST00000485515.5:n.594dup | ||
NM_003000.2:c.660dup , LRG_316t1:c.660dup | NP_002991.2:p.Asp221Ter | |
NM_003000.3:c.660dup MANE Select | NP_002991.2:p.Asp221Ter |