dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65767191A>C , CM000674.2:g.65767191A>C | GRCh38 |
| NC_000012.11:g.66160971A>C , CM000674.1:g.66160971A>C | GRCh37 |
| NC_000012.10:g.64447238A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489520.2:n.133-8160T>G | ||
| NR_026825.2:n.133-8160T>G |