Linked Data
ClinVar Variation Id:
313429
ClinVar RCV Id:
RCV000369772
dbSNP Id:
rs756798787
ExAC:
14:60976212 C / T
gnomAD v2:
14-60976212-C-T
gnomAD v4:
14-60509494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509494C>T , CM000676.2:g.60509494C>T | GRCh38 |
| NC_000014.8:g.60976212C>T , CM000676.1:g.60976212C>T | GRCh37 |
| NC_000014.7:g.60045965C>T | NCBI36 |
| NG_008203.1:g.5275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327720.6:c.96C>T (SIX6) MANE Select | ENSP00000328596.5:p.Arg32= | |
| ENST00000327720.5:c.96C>T (SIX6) | ENSP00000328596.5:p.Arg32= | |
| ENST00000556799.1:c.-144+5901G>A (C14orf39) | ENSP00000451441.1:n.-144+5901G>A | |
| NM_007374.2:c.96C>T (SIX6) | NP_031400.2:p.Arg32= | |
| NM_007374.3:c.96C>T (SIX6) MANE Select | NP_031400.2:p.Arg32= |