Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57249537G>A , CM000682.2:g.57249537G>A | GRCh38 |
| NC_000020.10:g.55824593G>A , CM000682.1:g.55824593G>A | GRCh37 |
| NC_000020.9:g.55258000G>A | NCBI36 |
| NG_032771.1:g.22115C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001719.3:c.418+16168C>T MANE Select | NP_001710.1:n.418+16168C>T |
| ENST00000395863.8:c.418+16168C>T MANE Select | ENSP00000379204.3:n.418+16168C>T |
| NM_001719.2:c.418+16168C>T | NP_001710.1:n.418+16168C>T |
| ENST00000395863.7:c.418+16168C>T | ENSP00000379204.3:n.418+16168C>T |
| ENST00000395864.7:c.418+16168C>T | ENSP00000379205.3:n.418+16168C>T |
| ENST00000433911.1:c.74+16168C>T | |
| ENST00000450594.6:c.418+16168C>T | ENSP00000398687.2:n.418+16168C>T |