Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130403535G>T , CM000673.2:g.130403535G>T | GRCh38 |
| NC_000011.9:g.130273430G>T , CM000673.1:g.130273430G>T | GRCh37 |
| NC_000011.8:g.129778640G>T | NCBI36 |
| NG_052870.1:g.30459C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948177.1:n.2630G>T | ||
| XR_948178.1:n.2284G>T | ||
| XR_948179.1:n.2202G>T | ||
| XR_948180.1:n.2202G>T | ||
| XR_948181.1:n.771G>T | ||
| XR_948182.1:n.2362G>T | ||
| XR_948183.1:n.458+9736G>T | ||
| XR_948184.1:n.693G>T | ||
| XR_948185.1:n.622G>T | ||
| XR_948187.1:n.458+9736G>T | ||
| XR_948188.1:n.525G>T | ||
| XR_948189.1:n.573G>T | ||
| NR_148980.1:n.846G>T |