Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2455412T>C , CM000678.2:g.2455412T>C | GRCh38 |
| NC_000016.9:g.2505413T>C , CM000678.1:g.2505413T>C | GRCh37 |
| NC_000016.8:g.2445414T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397066.9:c.1733T>C MANE Select | ENSP00000380256.4:p.Leu578Pro | |
| ENST00000293968.11:c.*1446T>C | ENSP00000293968.7:n.*1446T>C | |
| ENST00000397066.8:c.1733T>C | ENSP00000380256.4:p.Leu578Pro | |
| NM_001761.2:c.1733T>C | NP_001752.2:p.Leu578Pro | |
| XR_933004.1:n.545+1422A>G | ||
| NM_001323538.1:c.809T>C | NP_001310467.1:p.Leu270Pro | |
| NM_001761.3:c.1733T>C MANE Select | NP_001752.2:p.Leu578Pro | |
| NM_001323538.2:c.809T>C | NP_001310467.1:p.Leu270Pro |