Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184438C= , CM000679.2:g.42184438C= | GRCh38 |
| NC_000017.10:g.40336456C= , CM000679.1:g.40336456C= | GRCh37 |
| NC_000017.9:g.37589982C= | NCBI36 |
| NG_011448.1:g.6015G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.112G= MANE Select | ENSP00000293330.1:p.Asp38= | |
| NM_001524.1:c.112G= MANE Select | NP_001515.1:p.Asp38= |