Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924322T>C , CM000675.2:g.27924322T>C | GRCh38 |
| NC_000013.10:g.28498459T>C , CM000675.1:g.28498459T>C | GRCh37 |
| NC_000013.9:g.27396459T>C | NCBI36 |
| NG_008183.1:g.9292T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.473T>C MANE Select | ENSP00000370421.4:p.Leu158Pro | |
| ENST00000381033.4:c.473T>C | ENSP00000370421.4:p.Leu158Pro | |
| NM_000209.3:c.473T>C | NP_000200.1:p.Leu158Pro | |
| XR_941580.1:n.1115T>C | ||
| XR_941580.2:n.1127T>C | ||
| NM_000209.4:c.473T>C MANE Select | NP_000200.1:p.Leu158Pro |