HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5233021A>T , CM000673.2:g.5233021A>T | GRCh38 |
NC_000011.9:g.5254251A>T , CM000673.1:g.5254251A>T | GRCh37 |
NC_000011.8:g.5210827A>T | NCBI36 |
NG_000007.3:g.64595T>A | |
NG_063112.2:g.15637T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000643122.1:c.387T>A | ENSP00000494708.1:p.Ala129= | |
ENST00000650601.1:c.387T>A MANE Select | ENSP00000497529.1:p.Ala129= | |
ENST00000292901.7:c.316-223T>A | ENSP00000292901.3:n.316-223T>A | |
ENST00000380299.3:c.387T>A | ENSP00000369654.3:p.Ala129= | |
ENST00000417377.1:c.164T>A | ENSP00000414741.1:p.Leu55Gln | |
NM_000519.3:c.387T>A | NP_000510.1:p.Ala129= | |
NM_000519.4:c.387T>A MANE Select | NP_000510.1:p.Ala129= |