dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184125347A>C , CM000665.2:g.184125347A>C | GRCh38 |
| NC_000003.11:g.183843135A>C , CM000665.1:g.183843135A>C | GRCh37 |
| NC_000003.10:g.185325829A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002959683.1:n.670+9189T>G |