Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243834G= , CM000673.2:g.72243834G= | GRCh38 |
| NC_000011.9:g.71954878G= , CM000673.1:g.71954878G= | GRCh37 |
| NC_000011.8:g.71632526G= | NCBI36 |
| NG_008169.1:g.5343C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.171C= MANE Select | ENSP00000298231.5:p.Cys57= | |
| ENST00000544057.1:n.85+1746C= | ||
| NM_005169.3:c.171C= | NP_005160.2:p.Cys57= | |
| NM_005169.4:c.171C= MANE Select | NP_005160.2:p.Cys57= |