gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62852354A>C , CM000672.2:g.62852354A>C | GRCh38 |
| NC_000010.10:g.64612114A>C , CM000672.1:g.64612114A>C | GRCh37 |
| NC_000010.9:g.64282120A>C | NCBI36 |
| NG_008936.2:g.72547T>G , LRG_239:g.72547T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493899.2:n.542-36385T>G | ||
| XM_011539428.1:c.-90-36385T>G | XP_011537730.1:n.-90-36385T>G |