gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101491489T>C , CM000670.2:g.101491489T>C | GRCh38 |
| NC_000008.10:g.102503717T>C , CM000670.1:g.102503717T>C | GRCh37 |
| NC_000008.9:g.102572893T>C | NCBI36 |
| NG_011971.1:g.4050T>C | |
| NG_011971.2:g.4050T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928472.1:n.959A>G | ||
| XR_001746020.1:n.85+961A>G | ||
| XR_001746021.1:n.607A>G |