Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509419G>A , CM000676.2:g.60509419G>A | GRCh38 |
| NC_000014.8:g.60976137G>A , CM000676.1:g.60976137G>A | GRCh37 |
| NC_000014.7:g.60045890G>A | NCBI36 |
| NG_008203.1:g.5200G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007374.3:c.21G>A (SIX6) MANE Select | NP_031400.2:p.Leu7= |
| ENST00000327720.6:c.21G>A (SIX6) MANE Select | ENSP00000328596.5:p.Leu7= |
| NM_007374.2:c.21G>A (SIX6) | NP_031400.2:p.Leu7= |
| ENST00000327720.5:c.21G>A (SIX6) | ENSP00000328596.5:p.Leu7= |
| ENST00000556799.1:c.-144+5976C>T (C14orf39) | ENSP00000451441.1:n.-144+5976C>T |