HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57251112A>G , CM000682.2:g.57251112A>G | GRCh38 |
NC_000020.10:g.55826168A>G , CM000682.1:g.55826168A>G | GRCh37 |
NC_000020.9:g.55259575A>G | NCBI36 |
NG_032771.1:g.20540T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000395863.8:c.418+14593T>C MANE Select | ENSP00000379204.3:n.418+14593T>C | |
ENST00000395863.7:c.418+14593T>C | ENSP00000379204.3:n.418+14593T>C | |
ENST00000395864.7:c.418+14593T>C | ENSP00000379205.3:n.418+14593T>C | |
ENST00000433911.1:c.74+14593T>C | ||
ENST00000450594.6:c.418+14593T>C | ENSP00000398687.2:n.418+14593T>C | |
NM_001719.2:c.418+14593T>C | NP_001710.1:n.418+14593T>C | |
NM_001719.3:c.418+14593T>C MANE Select | NP_001710.1:n.418+14593T>C |