Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159204097A= , CM000663.2:g.159204097A= | GRCh38 |
| NC_000001.10:g.159173887A= , CM000663.1:g.159173887A= | GRCh37 |
| NC_000001.9:g.157440511A= | NCBI36 |
| NG_011626.1:g.4378A= | |
| NG_011626.3:g.5085A= | |
| NG_051933.1:g.37534A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537147.5:c.-679-184A= | ENSP00000441985.1:n.-679-184A= | |
| NM_002036.3:c.-863A= | NP_002027.2:n.-863A= |