HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116830654A>G , CM000673.2:g.116830654A>G | GRCh38 |
NC_000011.9:g.116701370A>G , CM000673.1:g.116701370A>G | GRCh37 |
NC_000011.8:g.116206580A>G | NCBI36 |
NG_008949.1:g.5747A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.55+17A>G MANE Select | ENSP00000227667.2:n.55+17A>G | |
ENST00000227667.7:c.55+17A>G | ENSP00000227667.2:n.55+17A>G | |
ENST00000375345.3:c.109+17A>G | ENSP00000364494.1:n.109+17A>G | |
ENST00000433777.5:c.55+17A>G | ENSP00000410614.1:n.55+17A>G | |
ENST00000470144.1:n.87+17A>G | ||
ENST00000630701.1:c.109+17A>G | ENSP00000486182.1:n.109+17A>G | |
NM_000040.1:c.55+17A>G | NP_000031.1:n.55+17A>G | |
NM_000040.2:c.55+17A>G | NP_000031.1:n.55+17A>G | |
NM_000040.3:c.55+17A>G MANE Select | NP_000031.1:n.55+17A>G |