dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19067767A>C , CM000686.2:g.19067767A>C | GRCh38 |
| NC_000024.9:g.21229653A>C , CM000686.1:g.21229653A>C | GRCh37 |
| NC_000024.8:g.19689041A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_001543.3:n.559+5200T>G | ||
| NR_125733.1:n.578+957T>G | ||
| NR_125734.1:n.578+957T>G | ||
| NR_125735.1:n.503+9278T>G | ||
| NR_125736.1:n.138+957T>G | ||
| NR_125737.1:n.138+957T>G | ||
| NR_001543.4:n.503+9278T>G | ||
| NR_125737.2:n.138+957T>G | ||
| NR_158640.1:n.152+5732T>G | ||
| NR_158641.1:n.164+957T>G |