HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24178372_24178373dup , CM000668.2:g.24178372_24178373dup | GRCh38 |
NC_000006.11:g.24178600_24178601dup , CM000668.1:g.24178600_24178601dup | GRCh37 |
NC_000006.10:g.24286579_24286580dup | NCBI36 |
NG_012829.1:g.184681_184682dup | |
NG_012829.2:g.209921_209922dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.1284_1285dup MANE Select | ENSP00000367715.3:p.Lys429ThrfsTer18 | |
ENST00000378450.6:c.543_544dup | ENSP00000367711.3:p.Lys182ThrfsTer18 | |
ENST00000378454.7:c.1284_1285dup | ENSP00000367715.3:p.Lys429ThrfsTer18 | |
NM_001195610.1:c.1284_1285dup | NP_001182539.1:p.Lys429ThrfsTer18 | |
NM_016356.4:c.1284_1285dup | NP_057440.2:p.Lys429ThrfsTer18 | |
NM_016356.5:c.1284_1285dup MANE Select | NP_057440.2:p.Lys429ThrfsTer18 | |
NM_001195610.2:c.1284_1285dup | NP_001182539.1:p.Lys429ThrfsTer18 |