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