HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65170191dup , CM000674.2:g.65170191dup | GRCh38 |
NC_000012.11:g.65563971dup , CM000674.1:g.65563971dup | GRCh37 |
NC_000012.10:g.63850238dup | NCBI36 |
NG_016210.1:g.5621dup | |
NG_016210.2:g.5621dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.595dup MANE Select | ENSP00000308369.2:p.Ala199GlyfsTer30 | |
ENST00000308330.2:c.595dup | ENSP00000308369.2:p.Ala199GlyfsTer30 | |
ENST00000541171.1:n.609dup | ||
NM_001167614.1:c.595dup | NP_001161086.1:p.Ala199GlyfsTer30 | |
NM_014319.4:c.595dup | NP_055134.2:p.Ala199GlyfsTer30 | |
NM_014319.5:c.595dup MANE Select | NP_055134.2:p.Ala199GlyfsTer30 | |
NM_001167614.2:c.595dup | NP_001161086.1:p.Ala199GlyfsTer30 |