Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94304471C= , CM000676.2:g.94304471C= | GRCh38 |
| NC_000014.8:g.94770808C= , CM000676.1:g.94770808C= | GRCh37 |
| NC_000014.7:g.93840561C= | NCBI36 |
| NG_011796.1:g.23881G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001756.4:c.1165G= MANE Select | NP_001747.3:p.Asp389= |
| ENST00000341584.4:c.1165G= MANE Select | ENSP00000342850.3:p.Asp389= |
| NM_001756.3:c.1165G= | NP_001747.2:p.Asp389= |
| ENST00000341584.3:c.1165G= | ENSP00000342850.3:p.Asp389= |
| ENST00000555056.1:c.*477G= | ENSP00000451045.1:n.*477G= |