Linked Data
ClinVar Variation Id:
4436
ClinVar RCV Id:
RCV000004686
dbSNP Id:
rs104894480
PubMed:
PMID:15266624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509891A>G , CM000676.2:g.60509891A>G | GRCh38 |
| NC_000014.8:g.60976609A>G , CM000676.1:g.60976609A>G | GRCh37 |
| NC_000014.7:g.60046362A>G | NCBI36 |
| NG_008203.1:g.5672A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327720.6:c.493A>G (SIX6) MANE Select | ENSP00000328596.5:p.Thr165Ala | |
| ENST00000327720.5:c.493A>G (SIX6) | ENSP00000328596.5:p.Thr165Ala | |
| ENST00000556799.1:c.-144+5504T>C (C14orf39) | ENSP00000451441.1:n.-144+5504T>C | |
| NM_007374.2:c.493A>G (SIX6) | NP_031400.2:p.Thr165Ala | |
| NM_007374.3:c.493A>G (SIX6) MANE Select | NP_031400.2:p.Thr165Ala |