HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17023978dup , CM000663.2:g.17023978dup | GRCh38 |
NC_000001.10:g.17350473dup , CM000663.1:g.17350473dup | GRCh37 |
NC_000001.9:g.17223060dup | NCBI36 |
NG_012340.1:g.35193dup , LRG_316:g.35193dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.466dup | ENSP00000481376.2:p.Met156AsnfsTer9 | |
ENST00000491274.6:c.595dup | ENSP00000480482.2:p.Met199AsnfsTer9 | |
ENST00000375499.8:c.637dup MANE Select | ENSP00000364649.3:p.Met213AsnfsTer9 | |
ENST00000375499.7:c.637dup | ENSP00000364649.3:p.Met213AsnfsTer9 | |
ENST00000485515.5:n.571dup | ||
ENST00000491274.5:c.595dup | ENSP00000480482.1:p.Met199AsnfsTer? | |
NM_003000.2:c.637dup , LRG_316t1:c.637dup | NP_002991.2:p.Met213AsnfsTer9 | |
NM_003000.3:c.637dup MANE Select | NP_002991.2:p.Met213AsnfsTer9 |