Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812113C>G , CM000663.2:g.192812113C>G | GRCh38 |
| NC_000001.10:g.192781243C>G , CM000663.1:g.192781243C>G | GRCh37 |
| NC_000001.9:g.191047866C>G | NCBI36 |
| NG_012800.1:g.8075C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*517C>G MANE Select | ENSP00000235382.5:n.*517C>G | |
| ENST00000235382.6:c.*517C>G | ENSP00000235382.5:n.*517C>G | |
| NM_002923.3:c.*517C>G | NP_002914.1:n.*517C>G | |
| NM_002923.4:c.*517C>G MANE Select | NP_002914.1:n.*517C>G |