Linked Data
dbSNP Id:
rs188028162
gnomAD v2:
11-130273012-A-T
gnomAD v3:
11-130403117-A-T
gnomAD v4:
11-130403117-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403117A>T , CM000673.2:g.130403117A>T | GRCh38 |
| NC_000011.9:g.130273012A>T , CM000673.1:g.130273012A>T | GRCh37 |
| NC_000011.8:g.129778222A>T | NCBI36 |
| NG_052870.1:g.30877T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2212A>T | ||
| XR_948178.1:n.1866A>T | ||
| XR_948179.1:n.1784A>T | ||
| XR_948180.1:n.1784A>T | ||
| XR_948181.1:n.537-184A>T | ||
| XR_948182.1:n.1944A>T | ||
| XR_948183.1:n.458+9318A>T | ||
| XR_948184.1:n.459-184A>T | ||
| XR_948185.1:n.388-184A>T | ||
| XR_948187.1:n.458+9318A>T | ||
| XR_948188.1:n.291-184A>T | ||
| XR_948189.1:n.339-184A>T | ||
| NR_148980.1:n.612-184A>T |