Linked Data
ClinVar Variation Id:
189378
ClinVar RCV Id:
RCV000169774
dbSNP Id:
rs786204851
gnomAD v4:
14-60509508-T-C
PubMed:
PMID:24702266
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509508T>C , CM000676.2:g.60509508T>C | GRCh38 |
| NC_000014.8:g.60976226T>C , CM000676.1:g.60976226T>C | GRCh37 |
| NC_000014.7:g.60045979T>C | NCBI36 |
| NG_008203.1:g.5289T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327720.6:c.110T>C (SIX6) MANE Select | ENSP00000328596.5:p.Leu37Pro | |
| ENST00000327720.5:c.110T>C (SIX6) | ENSP00000328596.5:p.Leu37Pro | |
| ENST00000556799.1:c.-144+5887A>G (C14orf39) | ENSP00000451441.1:n.-144+5887A>G | |
| NM_007374.2:c.110T>C (SIX6) | NP_031400.2:p.Leu37Pro | |
| NM_007374.3:c.110T>C (SIX6) MANE Select | NP_031400.2:p.Leu37Pro |