dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34799485G>C , CM000677.2:g.34799485G>C | GRCh38 |
| NC_000015.9:g.35091686G>C , CM000677.1:g.35091686G>C | GRCh37 |
| NC_000015.8:g.32878978G>C | NCBI36 |
| NG_007553.1:g.1242C>G , LRG_388:g.1242C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120329.1:n.300-11011G>C |