| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.82521000A= , CM000671.2:g.82521000A= | GRCh38 |
| NC_000009.11:g.85135915A= , CM000671.1:g.85135915A= | GRCh37 |
| NC_000009.10:g.84325735A= | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000589973.2:n.247+24142A= | |
| ENST00000590298.5:n.440-43029A= | |
| ENST00000590791.5:n.526-3519A= | |
| ENST00000591257.5:n.347-3519A= | |
| ENST00000637606.1:n.985+24142A= | |
| XR_001746782.1:n.241+24142A= |