| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.169420286T>C , CM000668.2:g.169420286T>C | GRCh38 |
| NC_000006.11:g.169820381T>C , CM000668.1:g.169820381T>C | GRCh37 |
| NC_000006.10:g.169562306T>C | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648086.1:c.*875A>G | ENSP00000497979.1:n.*875A>G |
| ENST00000650382.1:n.2014A>G |