dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51150528T>A , CM000675.2:g.51150528T>A | GRCh38 |
| NC_000013.10:g.51724664T>A , CM000675.1:g.51724664T>A | GRCh37 |
| NC_000013.9:g.50622665T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433280.6:n.136+21725A>T | ||
| ENST00000569306.1:n.235+21460A>T | ||
| ENST00000636098.1:n.207-37306A>T | ||
| NR_102431.2:n.136+21725A>T | ||
| NR_102432.2:n.235+21460A>T | ||
| NR_102431.3:n.136+21725A>T | ||
| NR_102432.3:n.235+21460A>T |