Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132294079C= , CM000667.2:g.132294079C= | GRCh38 |
| NC_000005.9:g.131629772C= , CM000667.1:g.131629772C= | GRCh37 |
| NC_000005.8:g.131657671C= | NCBI36 |
| NG_012129.1:g.4628C= | |
| NG_012129.2:g.4628C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431054.5:c.78+1099G= | ENSP00000391257.1:n.78+1099G= | |
| ENST00000471826.1:n.138+1099G= |