Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31171675T>G , CM000668.2:g.31171675T>G | GRCh38 |
| NC_000006.11:g.31139452T>G , CM000668.1:g.31139452T>G | GRCh37 |
| NC_000006.10:g.31247431T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000441888.7:c.-183-5628A>C | ENSP00000389359.2:n.-183-5628A>C |