dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101928157G>C , CM000674.2:g.101928157G>C | GRCh38 |
| NC_000012.11:g.102321935G>C , CM000674.1:g.102321935G>C | GRCh37 |
| NC_000012.10:g.100846066G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549066.1:c.109+13925G>C |