Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159204333C= , CM000663.2:g.159204333C= | GRCh38 |
| NC_000001.10:g.159174123C= , CM000663.1:g.159174123C= | GRCh37 |
| NC_000001.9:g.157440747C= | NCBI36 |
| NG_011626.1:g.4614C= | |
| NG_011626.3:g.5321C= | |
| NG_051933.1:g.37770C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002036.3:c.-627C= | NP_002027.2:n.-627C= |
| ENST00000368122.2:c.-627C= | ENSP00000357104.1:n.-627C= |
| ENST00000537147.5:c.-627C= | ENSP00000441985.1:n.-627C= |