Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8000884A>G , CM000668.2:g.8000884A>G | GRCh38 |
| NC_000006.11:g.8001117A>G , CM000668.1:g.8001117A>G | GRCh37 |
| NC_000006.10:g.7946116A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037616.1:n.422+25483T>C | |
| ENST00000439343.2:c.372+25483T>C | ENSP00000454697.1:n.372+25483T>C |