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