gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.799082G>T , CM000663.2:g.799082G>T | GRCh38 |
| NC_000001.10:g.734462G>T , CM000663.1:g.734462G>T | GRCh37 |
| NC_000001.9:g.724325G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634337.2:n.127+28588C>A | ||
| ENST00000635509.2:n.100+28588C>A | ||
| XR_002958522.1:n.71-4485G>T | ||
| XR_002958525.1:n.285-4869G>T | ||
| XR_946806.3:n.352-4837G>T |