dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46463303G>C , CM000664.2:g.46463303G>C | GRCh38 |
| NC_000002.11:g.46690442G>C , CM000664.1:g.46690442G>C | GRCh37 |
| NC_000002.10:g.46543946G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432241.5:n.365-20941G>C |