HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218814102_218814105dup , CM000664.2:g.218814102_218814105dup | GRCh38 |
NC_000002.11:g.219678825_219678828dup , CM000664.1:g.219678825_219678828dup | GRCh37 |
NC_000002.10:g.219387069_219387072dup | NCBI36 |
NG_007959.1:g.37354_37357dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258415.9:c.1099_1102dup MANE Select | ENSP00000258415.4:p.Val368GlyfsTer25 | |
ENST00000258415.8:c.1099_1102dup | ENSP00000258415.4:p.Val368GlyfsTer25 | |
ENST00000494263.5:n.1533_1536dup | ||
NM_000784.3:c.1099_1102dup | NP_000775.1:p.Val368GlyfsTer25 | |
XM_017003488.2:c.679_682dup | XP_016858977.1:p.Val228GlyfsTer25 | |
NM_000784.4:c.1099_1102dup MANE Select | NP_000775.1:p.Val368GlyfsTer25 |