Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576777C= , CM000663.2:g.58576777C= | GRCh38 |
| NC_000001.10:g.59042449C= , CM000663.1:g.59042449C= | GRCh37 |
| NC_000001.9:g.58815037C= | NCBI36 |
| NG_016237.1:g.5718G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.380G= MANE Select | ENSP00000360269.2:p.Cys127= | |
| ENST00000371225.3:c.380G= | ENSP00000360269.2:p.Cys127= | |
| NM_002353.2:c.380G= | NP_002344.2:p.Cys127= | |
| NM_002353.3:c.380G= MANE Select | NP_002344.2:p.Cys127= |