Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403573G>T , CM000673.2:g.130403573G>T | GRCh38 |
| NC_000011.9:g.130273468G>T , CM000673.1:g.130273468G>T | GRCh37 |
| NC_000011.8:g.129778678G>T | NCBI36 |
| NG_052870.1:g.30421C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2668G>T | ||
| XR_948178.1:n.2322G>T | ||
| XR_948179.1:n.2240G>T | ||
| XR_948180.1:n.2240G>T | ||
| XR_948181.1:n.809G>T | ||
| XR_948182.1:n.2400G>T | ||
| XR_948183.1:n.458+9774G>T | ||
| XR_948184.1:n.731G>T | ||
| XR_948185.1:n.660G>T | ||
| XR_948187.1:n.458+9774G>T | ||
| XR_948188.1:n.563G>T | ||
| XR_948189.1:n.611G>T | ||
| NR_148980.1:n.884G>T |