Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17381883C>G , CM000663.2:g.17381883C>G | GRCh38 |
| NC_000001.10:g.17708378C>G , CM000663.1:g.17708378C>G | GRCh37 |
| NC_000001.9:g.17580965C>G | NCBI36 |
| NG_032943.1:g.14638C>G | |
| NG_032943.2:g.14638C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.554-84C>G MANE Select | ENSP00000483125.1:n.554-84C>G | |
| NM_207421.4:c.554-84C>G MANE Select | NP_997304.3:n.554-84C>G |