Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23471071T>G , CM000684.2:g.23471071T>G | GRCh38 |
| NC_000022.10:g.23813258T>G , CM000684.1:g.23813258T>G | GRCh37 |
| NC_000022.9:g.22143258T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_110539.1:n.465A>C | |
| NR_110539.2:n.465A>C | |
| NR_165488.1:n.434A>C | |
| NR_165489.1:n.465A>C | |
| NR_165490.1:n.465A>C |