Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176177905A>G , CM000664.2:g.176177905A>G | GRCh38 |
| NC_000002.11:g.177042633A>G , CM000664.1:g.177042633A>G | GRCh37 |
| NC_000002.10:g.176750879A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033979.2:n.146-411T>C | ||
| NR_110458.1:n.225T>C | ||
| NR_110459.1:n.225-49T>C | ||
| NR_110460.1:n.225-79T>C | ||
| NR_110461.1:n.276-411T>C | ||
| NR_110462.1:n.225T>C | ||
| NR_110463.1:n.128-84T>C | ||
| NR_110464.1:n.116-84T>C | ||
| NR_110465.1:n.225-411T>C | ||
| NR_110466.1:n.155-411T>C | ||
| NR_110467.1:n.127+98T>C | ||
| NR_110468.1:n.115+110T>C |