dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20077705A>T , CM000674.2:g.20077705A>T | GRCh38 |
| NC_000012.11:g.20230639A>T , CM000674.1:g.20230639A>T | GRCh37 |
| NC_000012.10:g.20121906A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_040098.1:n.410-21047A>T |