HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57251044G= , CM000682.2:g.57251044G= | GRCh38 |
NC_000020.10:g.55826100G= , CM000682.1:g.55826100G= | GRCh37 |
NC_000020.9:g.55259507G= | NCBI36 |
NG_032771.1:g.20608C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395863.8:c.418+14661C= MANE Select | ENSP00000379204.3:n.418+14661C= | |
ENST00000395863.7:c.418+14661C= | ENSP00000379204.3:n.418+14661C= | |
ENST00000395864.7:c.418+14661C= | ENSP00000379205.3:n.418+14661C= | |
ENST00000433911.1:c.74+14661C= | ||
ENST00000450594.6:c.418+14661C= | ENSP00000398687.2:n.418+14661C= | |
NM_001719.2:c.418+14661C= | NP_001710.1:n.418+14661C= | |
NM_001719.3:c.418+14661C= MANE Select | NP_001710.1:n.418+14661C= |