Linked Data
ClinVar Variation Id:
296097
dbSNP Id:
rs5049
gnomAD v2:
1-230850083-C-T
gnomAD v3:
1-230714337-C-T
gnomAD v4:
1-230714337-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230714337C>T , CM000663.2:g.230714337C>T | GRCh38 |
| NC_000001.10:g.230850083C>T , CM000663.1:g.230850083C>T | GRCh37 |
| NC_000001.9:g.228916706C>T | NCBI36 |
| NG_008836.1:g.5254G>A | |
| NG_008836.2:g.5254G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679684.1:c.-282G>A | ENSP00000505981.1:n.-282G>A | |
| ENST00000679738.1:c.-282G>A | ENSP00000505063.1:n.-282G>A | |
| ENST00000679802.1:c.-282G>A | ENSP00000505184.1:n.-282G>A | |
| ENST00000679854.1:n.230G>A | ||
| ENST00000679957.1:c.-282G>A | ENSP00000506646.1:n.-282G>A | |
| ENST00000680783.1:c.-282G>A | ENSP00000506329.1:n.-282G>A | |
| ENST00000681269.1:c.-30-3484G>A | ENSP00000505985.1:n.-30-3484G>A | |
| ENST00000681347.1:n.230G>A | ||
| ENST00000681772.1:c.-282G>A | ENSP00000505829.1:n.-282G>A | |
| NM_000029.3:c.-255G>A | NP_000020.1:n.-255G>A | |
| NM_001382817.3:c.-30-3484G>A | NP_001369746.2:n.-30-3484G>A |