gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89177755C>G , CM000673.2:g.89177755C>G | GRCh38 |
| NC_000011.9:g.88910923C>G , CM000673.1:g.88910923C>G | GRCh37 |
| NC_000011.8:g.88550571C>G | NCBI36 |
| NG_008748.1:g.4884C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.5:c.-199C>G | ENSP00000263321.4:n.-199C>G | |
| XM_011542970.2:c.-199C>G | XP_011541272.1:n.-199C>G | |
| XR_001748321.1:n.2718-64222G>C | ||
| XR_001748322.1:n.2733-64222G>C |