Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243792C>A , CM000673.2:g.72243792C>A | GRCh38 |
| NC_000011.9:g.71954836C>A , CM000673.1:g.71954836C>A | GRCh37 |
| NC_000011.8:g.71632484C>A | NCBI36 |
| NG_008169.1:g.5385G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.213G>T MANE Select | ENSP00000298231.5:p.Ser71= | |
| ENST00000544057.1:n.85+1788G>T | ||
| NM_005169.3:c.213G>T | NP_005160.2:p.Ser71= | |
| NM_005169.4:c.213G>T MANE Select | NP_005160.2:p.Ser71= |