Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403061C>T , CM000673.2:g.130403061C>T | GRCh38 |
| NC_000011.9:g.130272956C>T , CM000673.1:g.130272956C>T | GRCh37 |
| NC_000011.8:g.129778166C>T | NCBI36 |
| NG_052870.1:g.30933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2156C>T | ||
| XR_948178.1:n.1810C>T | ||
| XR_948179.1:n.1728C>T | ||
| XR_948180.1:n.1728C>T | ||
| XR_948181.1:n.537-240C>T | ||
| XR_948182.1:n.1888C>T | ||
| XR_948183.1:n.458+9262C>T | ||
| XR_948184.1:n.459-240C>T | ||
| XR_948185.1:n.388-240C>T | ||
| XR_948187.1:n.458+9262C>T | ||
| XR_948188.1:n.291-240C>T | ||
| XR_948189.1:n.339-240C>T | ||
| NR_148980.1:n.612-240C>T |