HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354415dup , CM000666.2:g.40354415dup | GRCh38 |
NC_000004.11:g.40356432dup , CM000666.1:g.40356432dup | GRCh37 |
NC_000004.10:g.40051189dup | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000310169.3:c.1335dup MANE Select | ENSP00000312663.2:p.Ser446GlufsTer2 | |
ENST00000310169.2:c.1335dup | ENSP00000312663.2:p.Ser446GlufsTer2 | |
NM_017581.3:c.1335dup | NP_060051.2:p.Ser446GlufsTer2 | |
NM_017581.4:c.1335dup MANE Select | NP_060051.2:p.Ser446GlufsTer2 |