dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79935194G>C , CM000672.2:g.79935194G>C | GRCh38 |
| NC_000010.10:g.81694950G>C , CM000672.1:g.81694950G>C | GRCh37 |
| NC_000010.9:g.81684930G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421889.1:n.109-1337G>C |