| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7961680G= , CM000663.2:g.7961680G= | GRCh38 |
| NC_000001.10:g.8021740G= , CM000663.1:g.8021740G= | GRCh37 |
| NC_000001.9:g.7944327G= | NCBI36 |
| NG_008271.1:g.5027G= |
| HGVS | Amino-acid Change |
|---|---|
| NM_001123377.1:c.-79G= | NP_001116849.1:n.-79G= |
| NM_007262.4:c.-137G= | NP_009193.2:n.-137G= |
| ENST00000338639.9:c.-137G= | ENSP00000340278.5:n.-137G= |
| ENST00000460192.5:n.18G= | |
| ENST00000493373.5:c.-23-1083G= | ENSP00000465404.1:n.-23-1083G= |