HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116830659G>T , CM000673.2:g.116830659G>T | GRCh38 |
NC_000011.9:g.116701375G>T , CM000673.1:g.116701375G>T | GRCh37 |
NC_000011.8:g.116206585G>T | NCBI36 |
NG_008949.1:g.5752G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.55+22G>T MANE Select | ENSP00000227667.2:n.55+22G>T | |
ENST00000227667.7:c.55+22G>T | ENSP00000227667.2:n.55+22G>T | |
ENST00000375345.3:c.109+22G>T | ENSP00000364494.1:n.109+22G>T | |
ENST00000433777.5:c.55+22G>T | ENSP00000410614.1:n.55+22G>T | |
ENST00000470144.1:n.87+22G>T | ||
ENST00000630701.1:c.109+22G>T | ENSP00000486182.1:n.109+22G>T | |
NM_000040.1:c.55+22G>T | NP_000031.1:n.55+22G>T | |
NM_000040.2:c.55+22G>T | NP_000031.1:n.55+22G>T | |
NM_000040.3:c.55+22G>T MANE Select | NP_000031.1:n.55+22G>T |