gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31298313G>T , CM000668.2:g.31298313G>T | GRCh38 |
| NC_000006.11:g.31266090G>T , CM000668.1:g.31266090G>T | GRCh37 |
| NC_000006.10:g.31374069G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926691.1:n.1309C>A | ||
| NR_149115.1:n.166+3159C>A | ||
| XR_926691.2:n.1325C>A |