Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45921476G= , CM000669.2:g.45921476G= | GRCh38 |
| NC_000007.13:g.45961075G= , CM000669.1:g.45961075G= | GRCh37 |
| NC_000007.12:g.45927600G= | NCBI36 |
| NG_011508.1:g.4797C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000448817.1:c.73+151C= | ENSP00000389668.1:n.73+151C= |