Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812042C>G , CM000663.2:g.192812042C>G | GRCh38 |
| NC_000001.10:g.192781172C>G , CM000663.1:g.192781172C>G | GRCh37 |
| NC_000001.9:g.191047795C>G | NCBI36 |
| NG_012800.1:g.8004C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002923.4:c.*446C>G MANE Select | NP_002914.1:n.*446C>G |
| ENST00000235382.7:c.*446C>G MANE Select | ENSP00000235382.5:n.*446C>G |
| NM_002923.3:c.*446C>G | NP_002914.1:n.*446C>G |
| ENST00000235382.6:c.*446C>G | ENSP00000235382.5:n.*446C>G |