HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226796C>T , CM000673.2:g.5226796C>T | GRCh38 |
NC_000011.9:g.5248026C>T , CM000673.1:g.5248026C>T | GRCh37 |
NC_000011.8:g.5204602C>T | NCBI36 |
NG_000007.3:g.70820G>A | |
NG_059281.1:g.5276G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.96G>A | ENSP00000494175.1:p.Leu32= | |
ENST00000335295.4:c.96G>A MANE Select | ENSP00000333994.3:p.Leu32= | |
ENST00000380315.2:c.96G>A | ENSP00000369671.2:p.Leu32= | |
ENST00000475226.1:n.28G>A | ||
ENST00000485743.1:n.147G>A | ||
ENST00000633227.1:c.80G>A | ENSP00000488004.1:p.Cys27Tyr | |
NM_000518.4:c.96G>A | NP_000509.1:p.Leu32= | |
NM_000518.5:c.96G>A MANE Select | NP_000509.1:p.Leu32= |