dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47293543A>T , CM000681.2:g.47293543A>T | GRCh38 |
| NC_000019.9:g.47796800A>T , CM000681.1:g.47796800A>T | GRCh37 |
| NC_000019.8:g.52488640A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595501.5:n.235+1370A>T |