dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17218291A>C , CM000672.2:g.17218291A>C | GRCh38 |
| NC_000010.10:g.17260290A>C , CM000672.1:g.17260290A>C | GRCh37 |
| NC_000010.9:g.17300296A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_108060.1:n.44-616T>G | ||
| NR_108061.1:n.642-2017T>G |