Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31172291C= , CM000668.2:g.31172291C= | GRCh38 |
| NC_000006.11:g.31140068C= , CM000668.1:g.31140068C= | GRCh37 |
| NC_000006.10:g.31248047C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441888.7:c.-183-6244G= | ENSP00000389359.2:n.-183-6244G= |