Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49980437A>C , CM000680.2:g.49980437A>C | GRCh38 |
| NC_000018.9:g.47506807A>C , CM000680.1:g.47506807A>C | GRCh37 |
| NC_000018.8:g.45760805A>C | NCBI36 |
| NG_012925.1:g.219645T>G | |
| NG_012925.2:g.219645T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080467.3:c.1056+7T>G MANE Select | NP_001073936.1:n.1056+7T>G |
| ENST00000285039.12:c.1056+7T>G MANE Select | ENSP00000285039.6:n.1056+7T>G |
| NM_001080467.2:c.1056+7T>G | NP_001073936.1:n.1056+7T>G |
| ENST00000285039.11:c.1056+7T>G | ENSP00000285039.6:n.1056+7T>G |
| ENST00000616031.4:c.1053+7T>G | ENSP00000479038.1:n.1053+7T>G |
| ENST00000697219.1:c.853+7T>G |