Linked Data
ClinVar Variation Id:
313427
ClinVar RCV Id:
RCV000274371
dbSNP Id:
rs538661695
gnomAD v2:
14-60975968-C-T
gnomAD v3:
14-60509250-C-T
gnomAD v4:
14-60509250-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509250C>T , CM000676.2:g.60509250C>T | GRCh38 |
| NC_000014.8:g.60975968C>T , CM000676.1:g.60975968C>T | GRCh37 |
| NC_000014.7:g.60045721C>T | NCBI36 |
| NG_008203.1:g.5031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327720.6:c.-149C>T (SIX6) MANE Select | ENSP00000328596.5:n.-149C>T | |
| ENST00000327720.5:c.-149C>T (SIX6) | ENSP00000328596.5:n.-149C>T | |
| ENST00000556799.1:c.-144+6145G>A (C14orf39) | ENSP00000451441.1:n.-144+6145G>A | |
| NM_007374.2:c.-149C>T (SIX6) | NP_031400.2:n.-149C>T | |
| NM_007374.3:c.-149C>T (SIX6) MANE Select | NP_031400.2:n.-149C>T |