gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.21804933C>G , CM000670.2:g.21804933C>G | GRCh38 |
| NC_000008.10:g.21662445C>G , CM000670.1:g.21662445C>G | GRCh37 |
| NC_000008.9:g.21718391C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517328.5:c.-36+84G>C | ENSP00000429445.1:n.-36+84G>C |