HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116830638G= , CM000673.2:g.116830638G= | GRCh38 |
NC_000011.9:g.116701354G= , CM000673.1:g.116701354G= | GRCh37 |
NC_000011.8:g.116206564G= | NCBI36 |
NG_008949.1:g.5731G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.55+1G= MANE Select | ENSP00000227667.2:n.55+1G= | |
ENST00000227667.7:c.55+1G= | ENSP00000227667.2:n.55+1G= | |
ENST00000375345.3:c.109+1G= | ENSP00000364494.1:n.109+1G= | |
ENST00000433777.5:c.55+1G= | ENSP00000410614.1:n.55+1G= | |
ENST00000470144.1:n.87+1G= | ||
ENST00000630701.1:c.109+1G= | ENSP00000486182.1:n.109+1G= | |
NM_000040.1:c.55+1G= | NP_000031.1:n.55+1G= | |
NM_000040.2:c.55+1G= | NP_000031.1:n.55+1G= | |
NM_000040.3:c.55+1G= MANE Select | NP_000031.1:n.55+1G= |