dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43255323A>T , CM000663.2:g.43255323A>T | GRCh38 |
| NC_000001.10:g.43720994A>T , CM000663.1:g.43720994A>T | GRCh37 |
| NC_000001.9:g.43493581A>T | NCBI36 |
| NG_028079.2:g.87994A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461557.2:n.108+6519T>A | ||
| ENST00000466927.5:n.69+6519T>A |