HGVS | Genome Assembly |
---|---|
NC_000012.12:g.34026851dup , CM000674.2:g.34026851dup | GRCh38 |
NC_000012.11:g.34179786dup , CM000674.1:g.34179786dup | GRCh37 |
NC_000012.10:g.34071053dup | NCBI36 |
NG_016389.1:g.9571dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266483.7:c.1358dup MANE Select | ENSP00000266483.2:p.Ile454HisfsTer12 | |
ENST00000266483.6:c.1358dup | ENSP00000266483.2:p.Ile454HisfsTer12 | |
ENST00000538927.1:c.369+2692dup | ENSP00000444084.1:n.369+2692dup | |
ENST00000541875.1:c.*1098dup | ENSP00000443142.1:n.*1098dup | |
NM_032834.3:c.1358dup | NP_116223.3:p.Ile454HisfsTer12 | |
XM_024449230.1:c.1178dup | XP_024304998.1:p.Ile394HisfsTer12 | |
XM_024449231.1:c.1178dup | XP_024304999.1:p.Ile394HisfsTer12 | |
NM_032834.4:c.1358dup MANE Select | NP_116223.3:p.Ile454HisfsTer12 |