HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951892dup , CM000670.2:g.19951892dup | GRCh38 |
NC_000008.10:g.19809403dup , CM000670.1:g.19809403dup | GRCh37 |
NC_000008.9:g.19853683dup | NCBI36 |
NG_008855.1:g.17822dup | |
NG_008855.2:g.55176dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.373dup MANE Select | ENSP00000497642.1:p.Ala125GlyfsTer23 | |
ENST00000311322.8:c.373dup | ENSP00000309757.6:p.Ala125GlyfsTer23 | |
ENST00000520959.5:c.145dup | ENSP00000428496.1:p.Ala49GlyfsTer23 | |
ENST00000524029.5:c.373dup | ENSP00000428237.1:p.Ala125GlyfsTer? | |
NM_000237.2:c.373dup | NP_000228.1:p.Ala125GlyfsTer23 | |
NM_000237.3:c.373dup MANE Select | NP_000228.1:p.Ala125GlyfsTer23 |