Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60511714A>G , CM000676.2:g.60511714A>G | GRCh38 |
| NC_000014.8:g.60978432A>G , CM000676.1:g.60978432A>G | GRCh37 |
| NC_000014.7:g.60048185A>G | NCBI36 |
| NG_008203.1:g.7495A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007374.3:c.*462A>G (SIX6) MANE Select | NP_031400.2:n.*462A>G |
| ENST00000327720.6:c.*462A>G (SIX6) MANE Select | ENSP00000328596.5:n.*462A>G |
| NM_007374.2:c.*462A>G (SIX6) | NP_031400.2:n.*462A>G |
| ENST00000327720.5:c.*462A>G (SIX6) | ENSP00000328596.5:n.*462A>G |
| ENST00000556799.1:c.-144+3681T>C (C14orf39) | ENSP00000451441.1:n.-144+3681T>C |