dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47232959T>A , CM000681.2:g.47232959T>A | GRCh38 |
| NC_000019.9:g.47736216T>A , CM000681.1:g.47736216T>A | GRCh37 |
| NC_000019.8:g.52428056T>A | NCBI36 |
| NG_031991.1:g.4808A>T | |
| NG_031991.2:g.4808A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006723141.2:c.-193A>T | XP_006723204.1:n.-193A>T | |
| XM_006723141.3:c.-193A>T | XP_006723204.1:n.-193A>T |