Linked Data
gnomAD v4:
11-130403448-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403448G>T , CM000673.2:g.130403448G>T | GRCh38 |
| NC_000011.9:g.130273343G>T , CM000673.1:g.130273343G>T | GRCh37 |
| NC_000011.8:g.129778553G>T | NCBI36 |
| NG_052870.1:g.30546C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2543G>T | ||
| XR_948178.1:n.2197G>T | ||
| XR_948179.1:n.2115G>T | ||
| XR_948180.1:n.2115G>T | ||
| XR_948181.1:n.684G>T | ||
| XR_948182.1:n.2275G>T | ||
| XR_948183.1:n.458+9649G>T | ||
| XR_948184.1:n.606G>T | ||
| XR_948185.1:n.535G>T | ||
| XR_948187.1:n.458+9649G>T | ||
| XR_948188.1:n.438G>T | ||
| XR_948189.1:n.486G>T | ||
| NR_148980.1:n.759G>T |