Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536428G>C , CM000679.2:g.42536428G>C | GRCh38 |
| NC_000017.10:g.40688446G>C , CM000679.1:g.40688446G>C | GRCh37 |
| NC_000017.9:g.37941972G>C | NCBI36 |
| NG_011552.1:g.5496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.156G>C MANE Select | ENSP00000225927.1:p.Val52= | |
| ENST00000225927.6:c.156G>C | ENSP00000225927.1:p.Val52= | |
| NM_000263.3:c.156G>C | NP_000254.2:p.Val52= | |
| XM_024450771.1:c.156G>C | XP_024306539.1:p.Val52= | |
| NM_000263.4:c.156G>C MANE Select | NP_000254.2:p.Val52= |