HGVS | Genome Assembly |
---|---|
NC_000011.10:g.69648046G>A , CM000673.2:g.69648046G>A | GRCh38 |
NC_000011.9:g.69462814G>A , CM000673.1:g.69462814G>A | GRCh37 |
NC_000011.8:g.69171995G>A | NCBI36 |
NG_007375.1:g.11942G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227507.3:c.627G>A MANE Select | ENSP00000227507.2:p.Val209= | |
ENST00000227507.2:c.627G>A | ENSP00000227507.2:p.Val209= | |
ENST00000536559.1:c.*47G>A | ENSP00000438482.1:n.*47G>A | |
ENST00000542367.1:n.90G>A | ||
ENST00000545484.1:n.333G>A | ||
NM_053056.2:c.627G>A | NP_444284.1:p.Val209= | |
XM_006718653.2:c.651G>A | XP_006718716.1:p.Val217= | |
NM_053056.3:c.627G>A MANE Select | NP_444284.1:p.Val209= |