gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.92501109T>G , CM000677.2:g.92501109T>G | GRCh38 |
| NC_000015.9:g.93044339T>G , CM000677.1:g.93044339T>G | GRCh37 |
| NC_000015.8:g.90845343T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001301106.1:c.*786T>G | NP_001288035.1:n.*786T>G | |
| NM_153040.2:c.*709T>G | NP_694585.1:n.*709T>G | |
| NR_161370.1:n.1718T>G | ||
| NR_161371.1:n.1756T>G |