Linked Data
ClinVar Variation Id:
218856
ClinVar RCV Id:
RCV000202770
dbSNP Id:
rs864309631
gnomAD v4:
19-45768228-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45768228T>C , CM000681.2:g.45768228T>C | GRCh38 |
| NC_000019.9:g.46271486T>C , CM000681.1:g.46271486T>C | GRCh37 |
| NC_000019.8:g.50963326T>C | NCBI36 |
| NG_009784.1:g.19330A>G | |
| NG_012745.1:g.6012A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.617A>G (SIX5) MANE Select | ENSP00000316842.4:p.Tyr206Cys | |
| ENST00000317578.6:c.617A>G (SIX5) | ENSP00000316842.4:p.Tyr206Cys | |
| ENST00000560160.1:c.400A>G (SIX5) | ||
| ENST00000560168.1:c.131-116A>G (SIX5) | ENSP00000453189.2:n.131-116A>G | |
| ENST00000622857.1:c.15+602A>G (SIX5) | ENSP00000481365.1:n.15+602A>G | |
| NM_175875.4:c.617A>G (SIX5) | NP_787071.2:p.Tyr206Cys | |
| NR_147193.1:n.336+97T>C (DM1-AS) | ||
| NM_175875.5:c.617A>G (SIX5) MANE Select | NP_787071.3:p.Tyr206Cys |