Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43770063C= , CM000668.2:g.43770063C= | GRCh38 |
| NC_000006.11:g.43737800C= , CM000668.1:g.43737800C= | GRCh37 |
| NC_000006.10:g.43845778C= | NCBI36 |
| NG_008732.1:g.4848C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_001318876.2:c.945+240792C= | NP_001305805.1:n.945+240792C= |