Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31172270G>C , CM000668.2:g.31172270G>C | GRCh38 |
| NC_000006.11:g.31140047G>C , CM000668.1:g.31140047G>C | GRCh37 |
| NC_000006.10:g.31248026G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-183-6223C>G | ENSP00000389359.2:n.-183-6223C>G |