dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44927769G>C , CM000664.2:g.44927769G>C | GRCh38 |
| NC_000002.11:g.45154908G>C , CM000664.1:g.45154908G>C | GRCh37 |
| NC_000002.10:g.45008412G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147195.1:n.378-4190C>G |