Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35201339C>A , CM000682.2:g.35201339C>A | GRCh38 |
| NC_000020.10:g.33789142C>A , CM000682.1:g.33789142C>A | GRCh37 |
| NC_000020.9:g.33252803C>A | NCBI36 |
| NG_032899.2:g.34369C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634509.1:c.95-14554C>A | ENSP00000489456.1:n.95-14554C>A | |
| ENST00000635377.1:c.631-14554C>A | ||
| XM_011528496.1:c.602-14554C>A | XP_011526798.1:n.602-14554C>A | |
| NM_001355008.1:c.-102+16473G>T | NP_001341937.1:n.-102+16473G>T | |
| NM_001355008.2:c.-102+16473G>T | NP_001341937.1:n.-102+16473G>T |