Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509945G>C , CM000676.2:g.60509945G>C | GRCh38 |
| NC_000014.8:g.60976663G>C , CM000676.1:g.60976663G>C | GRCh37 |
| NC_000014.7:g.60046416G>C | NCBI36 |
| NG_008203.1:g.5726G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007374.3:c.547G>C (SIX6) MANE Select | NP_031400.2:p.Asp183His |
| ENST00000327720.6:c.547G>C (SIX6) MANE Select | ENSP00000328596.5:p.Asp183His |
| NM_007374.2:c.547G>C (SIX6) | NP_031400.2:p.Asp183His |
| ENST00000327720.5:c.547G>C (SIX6) | ENSP00000328596.5:p.Asp183His |
| ENST00000556799.1:c.-144+5450C>G (C14orf39) | ENSP00000451441.1:n.-144+5450C>G |