Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49126049C>T , CM000665.2:g.49126049C>T | GRCh38 |
| NC_000003.11:g.49163482C>T , CM000665.1:g.49163482C>T | GRCh37 |
| NC_000003.10:g.49138486C>T | NCBI36 |
| NG_008094.1:g.12118G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.2262G>A MANE Select | NP_002283.3:p.Leu754= |
| ENST00000305544.9:c.2262G>A MANE Select | ENSP00000307156.4:p.Leu754= |
| NM_002292.3:c.2262G>A | NP_002283.3:p.Leu754= |
| ENST00000305544.8:c.2262G>A | ENSP00000307156.4:p.Leu754= |
| ENST00000418109.5:c.2262G>A | ENSP00000388325.1:p.Leu754= |
| ENST00000477701.1:n.135G>A | |
| ENST00000486298.5:n.343G>A | |
| ENST00000493571.1:n.172G>A | |
| XM_005265127.3:c.2262G>A | XP_005265184.1:p.Leu754= |
| XM_005265127.4:c.2262G>A | XP_005265184.1:p.Leu754= |