HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57251086C>T , CM000682.2:g.57251086C>T | GRCh38 |
NC_000020.10:g.55826142C>T , CM000682.1:g.55826142C>T | GRCh37 |
NC_000020.9:g.55259549C>T | NCBI36 |
NG_032771.1:g.20566G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395863.8:c.418+14619G>A MANE Select | ENSP00000379204.3:n.418+14619G>A | |
ENST00000395863.7:c.418+14619G>A | ENSP00000379204.3:n.418+14619G>A | |
ENST00000395864.7:c.418+14619G>A | ENSP00000379205.3:n.418+14619G>A | |
ENST00000433911.1:c.74+14619G>A | ||
ENST00000450594.6:c.418+14619G>A | ENSP00000398687.2:n.418+14619G>A | |
NM_001719.2:c.418+14619G>A | NP_001710.1:n.418+14619G>A | |
NM_001719.3:c.418+14619G>A MANE Select | NP_001710.1:n.418+14619G>A |