dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.127329196G>C , CM000674.2:g.127329196G>C | GRCh38 |
| NC_000012.11:g.127813741G>C , CM000674.1:g.127813741G>C | GRCh37 |
| NC_000012.10:g.126379694G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110057.1:n.202-4391C>G |