Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992773G>C , CM000670.2:g.16992773G>C | GRCh38 |
| NC_000008.10:g.16850282G>C , CM000670.1:g.16850282G>C | GRCh37 |
| NC_000008.9:g.16894653G>C | NCBI36 |
| NG_015978.1:g.14393C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*299C>G MANE Select | ENSP00000180166.5:n.*299C>G | |
| ENST00000180166.5:c.*299C>G | ENSP00000180166.5:n.*299C>G | |
| NM_019851.3:c.*299C>G MANE Select | NP_062825.1:n.*299C>G |