Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243862G>A , CM000673.2:g.72243862G>A | GRCh38 |
| NC_000011.9:g.71954906G>A , CM000673.1:g.71954906G>A | GRCh37 |
| NC_000011.8:g.71632554G>A | NCBI36 |
| NG_008169.1:g.5315C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.143C>T MANE Select | ENSP00000298231.5:p.Pro48Leu | |
| ENST00000544057.1:n.85+1718C>T | ||
| NM_005169.3:c.143C>T | NP_005160.2:p.Pro48Leu | |
| NM_005169.4:c.143C>T MANE Select | NP_005160.2:p.Pro48Leu |