Linked Data
ClinVar Variation Id:
313425
ClinVar RCV Id:
RCV000300322
dbSNP Id:
rs531110837
gnomAD v2:
14-60975943-C-G
gnomAD v3:
14-60509225-C-G
gnomAD v4:
14-60509225-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509225C>G , CM000676.2:g.60509225C>G | GRCh38 |
| NC_000014.8:g.60975943C>G , CM000676.1:g.60975943C>G | GRCh37 |
| NC_000014.7:g.60045696C>G | NCBI36 |
| NG_008203.1:g.5006C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327720.6:c.-174C>G (SIX6) MANE Select | ENSP00000328596.5:n.-174C>G | |
| ENST00000327720.5:c.-174C>G (SIX6) | ENSP00000328596.5:n.-174C>G | |
| ENST00000556799.1:c.-144+6170G>C (C14orf39) | ENSP00000451441.1:n.-144+6170G>C | |
| NM_007374.2:c.-174C>G (SIX6) | NP_031400.2:n.-174C>G | |
| NM_007374.3:c.-174C>G (SIX6) MANE Select | NP_031400.2:n.-174C>G |