dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112789017T>G , CM000666.2:g.112789017T>G | GRCh38 |
| NC_000004.11:g.113710173T>G , CM000666.1:g.113710173T>G | GRCh37 |
| NC_000004.10:g.113929622T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001354269.1:c.72+82800T>G | NP_001341198.1:n.72+82800T>G | |
| NM_001354269.3:c.72+82800T>G | NP_001341198.1:n.72+82800T>G | |
| NM_001386148.2:c.72+82800T>G | NP_001373077.1:n.72+82800T>G | |
| NM_001386186.2:c.72+82800T>G | NP_001373115.1:n.72+82800T>G | |
| NM_001386187.2:c.72+82800T>G | NP_001373116.1:n.72+82800T>G |