dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100190478T>C , CM000664.2:g.100190478T>C | GRCh38 |
| NC_000002.11:g.100806940T>C , CM000664.1:g.100806940T>C | GRCh37 |
| NC_000002.10:g.100173372T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672999.1:n.287+1664A>G |