dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.16576248G>C , CM000684.2:g.16576248G>C | GRCh38 |
| NC_000022.10:g.17057138G>C , CM000684.1:g.17057138G>C | GRCh37 |
| NC_000022.9:g.15437138G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493696.2:n.2504C>G |