Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92633743T>C , CM000672.2:g.92633743T>C | GRCh38 |
| NC_000010.10:g.94393500T>C , CM000672.1:g.94393500T>C | GRCh37 |
| NC_000010.9:g.94383480T>C | NCBI36 |
| NG_032580.1:g.45676T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.1823T>C MANE Select | ENSP00000260731.3:p.Leu608Pro | |
| ENST00000676621.1:c.*341T>C | ENSP00000503639.1:n.*341T>C | |
| ENST00000676647.1:c.1616T>C | ENSP00000503394.1:p.Leu539Pro | |
| ENST00000676757.1:c.1616T>C | ENSP00000504289.1:p.Leu539Pro | |
| ENST00000677720.1:c.1823T>C | ENSP00000504840.1:p.Leu608Pro | |
| ENST00000260731.4:c.1823T>C | ENSP00000260731.3:p.Leu608Pro | |
| NM_004523.3:c.1823T>C | NP_004514.2:p.Leu608Pro | |
| NM_004523.4:c.1823T>C MANE Select | NP_004514.2:p.Leu608Pro |