Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65640261C>G , CM000663.2:g.65640261C>G | GRCh38 |
| NC_000001.10:g.66105944C>G , CM000663.1:g.66105944C>G | GRCh37 |
| NC_000001.9:g.65878532C>G | NCBI36 |
| NG_015831.2:g.224697C>G , LRG_283:g.224697C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002303.6:c.*3246C>G MANE Select | NP_002294.2:n.*3246C>G |
| ENST00000349533.11:c.*3246C>G MANE Select | ENSP00000330393.7:n.*3246C>G |
| ENST00000349533.10:c.*3246C>G | ENSP00000330393.6:n.*3246C>G |