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