Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812055C>G , CM000663.2:g.192812055C>G | GRCh38 |
| NC_000001.10:g.192781185C>G , CM000663.1:g.192781185C>G | GRCh37 |
| NC_000001.9:g.191047808C>G | NCBI36 |
| NG_012800.1:g.8017C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*459C>G MANE Select | ENSP00000235382.5:n.*459C>G | |
| ENST00000235382.6:c.*459C>G | ENSP00000235382.5:n.*459C>G | |
| NM_002923.3:c.*459C>G | NP_002914.1:n.*459C>G | |
| NM_002923.4:c.*459C>G MANE Select | NP_002914.1:n.*459C>G |