Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64986345G>C , CM000676.2:g.64986345G>C | GRCh38 |
| NC_000014.8:g.65453063G>C , CM000676.1:g.65453063G>C | GRCh37 |
| NC_000014.7:g.64522816G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001202558.1:c.7-17904G>C | NP_001189487.1:n.7-17904G>C |
| NM_001202558.2:c.7-17904G>C | NP_001189487.1:n.7-17904G>C |
| NM_001202559.1:c.328-17904G>C | NP_001189488.1:n.328-17904G>C |
| ENST00000549987.1:c.247-17904G>C | ENSP00000447121.2:n.247-17904G>C |
| ENST00000551823.1:c.321-17904G>C | ENSP00000449709.1:n.321-17904G>C |
| ENST00000552941.5:c.187-17904G>C | |
| ENST00000552941.6:c.176-17904G>C | ENSP00000449668.2:n.176-17904G>C |
| ENST00000553743.5:c.92-17904G>C | ENSP00000450692.1:n.92-17904G>C |
| XR_001750792.1:n.661C>G |