dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.159051263G>C , CM000668.2:g.159051263G>C | GRCh38 |
| NC_000006.11:g.159472295G>C , CM000668.1:g.159472295G>C | GRCh37 |
| NC_000006.10:g.159392283G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001744430.2:n.1246+8955G>C |