Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57251045G>A , CM000682.2:g.57251045G>A | GRCh38 |
| NC_000020.10:g.55826101G>A , CM000682.1:g.55826101G>A | GRCh37 |
| NC_000020.9:g.55259508G>A | NCBI36 |
| NG_032771.1:g.20607C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395863.8:c.418+14660C>T MANE Select | ENSP00000379204.3:n.418+14660C>T | |
| ENST00000395863.7:c.418+14660C>T | ENSP00000379204.3:n.418+14660C>T | |
| ENST00000395864.7:c.418+14660C>T | ENSP00000379205.3:n.418+14660C>T | |
| ENST00000433911.1:c.74+14660C>T | ||
| ENST00000450594.6:c.418+14660C>T | ENSP00000398687.2:n.418+14660C>T | |
| NM_001719.2:c.418+14660C>T | NP_001710.1:n.418+14660C>T | |
| NM_001719.3:c.418+14660C>T MANE Select | NP_001710.1:n.418+14660C>T |