Canonical Allele Identifier:
CA2119046393
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110817691G>C , CM000675.2:g.110817691G>C | GRCh38 |
| NC_000013.10:g.111470038G>C , CM000675.1:g.111470038G>C | GRCh37 |
| NC_000013.9:g.110268039G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011521138.1:c.941-1099G>C | XP_011519440.1:n.941-1099G>C | |
| XM_011521139.1:c.794-1099G>C | XP_011519441.1:n.794-1099G>C | |
| XM_011521140.1:c.707-1099G>C | XP_011519442.1:n.707-1099G>C | |
| XM_011521141.1:c.513-1099G>C | XP_011519443.1:n.513-1099G>C | |
| XR_931727.1:n.1793-1099G>C | ||
| XR_931728.1:n.1400-1099G>C | ||
| NR_158538.1:n.70-1099G>C | ||
| XR_001750021.1:n.4393G>C |