HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48965840dup , CM000681.2:g.48965840dup | GRCh38 |
NC_000019.9:g.49469097dup , CM000681.1:g.49469097dup | GRCh37 |
NC_000019.8:g.54160909dup | NCBI36 |
NG_008152.1:g.5532dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331825.11:c.173dup MANE Select | ENSP00000366525.2:p.Lys59GlufsTer29 | |
ENST00000331825.10:c.173dup | ENSP00000366525.2:p.Lys59GlufsTer29 | |
ENST00000622577.2:c.173dup | ENSP00000484043.1:p.Lys59GlufsTer29 | |
NM_000146.3:c.173dup | NP_000137.2:p.Lys59GlufsTer29 | |
XM_024451447.1:c.683dup | XP_024307215.1:p.Lys229GlufsTer29 | |
NM_000146.4:c.173dup MANE Select | NP_000137.2:p.Lys59GlufsTer29 |