Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.51610252C= , CM000676.2:g.51610252C= | GRCh38 |
| NC_000014.8:g.52076970C= , CM000676.1:g.52076970C= | GRCh37 |
| NC_000014.7:g.51146720C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356218.8:c.-147+39842C= | ENSP00000348550.4:n.-147+39842C= | |
| ENST00000554745.1:n.278-33200C= | ||
| ENST00000556137.5:n.508+39842C= | ||
| NM_001042481.2:c.-147+39842C= | NP_001035946.1:n.-147+39842C= | |
| XM_011536423.1:c.-147+39842C= | XP_011534725.1:n.-147+39842C= | |
| XM_011536424.1:c.-147+39842C= | XP_011534726.1:n.-147+39842C= | |
| XM_024449472.1:c.-147+39842C= | XP_024305240.1:n.-147+39842C= | |
| XM_024449473.1:c.-146-79439C= | XP_024305241.1:n.-146-79439C= | |
| NM_001042481.3:c.-147+39842C= | NP_001035946.1:n.-147+39842C= |