dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13701633G>C , CM000665.2:g.13701633G>C | GRCh38 |
| NC_000003.11:g.13743132G>C , CM000665.1:g.13743132G>C | GRCh37 |
| NC_000003.10:g.13718133G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027103.1:n.217+13417G>C |