Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100490849G>T , CM000672.2:g.100490849G>T | GRCh38 |
| NC_000010.10:g.102250606G>T , CM000672.1:g.102250606G>T | GRCh37 |
| NC_000010.9:g.102240596G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015490.4:c.2507C>A MANE Select | NP_056305.1:p.Thr836Asn |
| ENST00000370345.8:c.2507C>A MANE Select | ENSP00000359370.3:p.Thr836Asn |
| NM_015490.3:c.2507C>A | NP_056305.1:p.Thr836Asn |
| ENST00000370345.7:c.2507C>A | ENSP00000359370.3:p.Thr836Asn |
| ENST00000462434.5:c.*2051C>A | ENSP00000474124.1:n.*2051C>A |
| ENST00000469546.6:c.*1901C>A | ENSP00000435359.1:n.*1901C>A |
| ENST00000479697.5:c.*2704C>A | ENSP00000473995.1:n.*2704C>A |
| ENST00000482456.6:c.*2100C>A | ENSP00000432260.1:n.*2100C>A |