Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44313399C= , CM000668.2:g.44313399C= | GRCh38 |
| NC_000006.11:g.44281136C= , CM000668.1:g.44281136C= | GRCh37 |
| NC_000006.10:g.44389114C= | NCBI36 |
| NG_031952.1:g.4928G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505802.1:c.855+5757C= | ||
| NM_001318876.2:c.946-128491C= | NP_001305805.1:n.946-128491C= |