Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173581T>C , CM000678.2:g.173581T>C | GRCh38 |
| NC_000016.9:g.223580T>C , CM000678.1:g.223580T>C | GRCh37 |
| NC_000016.8:g.163580T>C | NCBI36 |
| NG_000006.1:g.34444T>C | |
| NG_059186.1:g.1931T>C | |
| NG_059271.1:g.5735T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.410T>C MANE Select | ENSP00000251595.6:p.Leu137Pro | |
| ENST00000251595.10:c.410T>C | ENSP00000251595.6:p.Leu137Pro | |
| ENST00000397806.1:c.314T>C | ENSP00000380908.1:p.Leu105Pro | |
| ENST00000482565.1:n.546T>C | ||
| NM_000517.4:c.410T>C | NP_000508.1:p.Leu137Pro | |
| NM_000517.6:c.410T>C MANE Select | NP_000508.1:p.Leu137Pro |