dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7911469T>A , CM000668.2:g.7911469T>A | GRCh38 |
| NC_000006.11:g.7911702T>A , CM000668.1:g.7911702T>A | GRCh37 |
| NC_000006.10:g.7856701T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439343.2:c.373-6746A>T | ENSP00000454697.1:n.373-6746A>T | |
| NR_037616.1:n.423-6746A>T |