Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114061451C>G , CM000671.2:g.114061451C>G | GRCh38 |
| NC_000009.11:g.116823731C>G , CM000671.1:g.116823731C>G | GRCh37 |
| NC_000009.10:g.115863552C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001633.4:c.826G>C MANE Select | NP_001624.1:p.Glu276Gln |
| ENST00000265132.8:c.826G>C MANE Select | ENSP00000265132.3:p.Glu276Gln |
| NM_001633.3:c.826G>C | NP_001624.1:p.Glu276Gln |
| ENST00000265132.7:c.826G>C | ENSP00000265132.3:p.Glu276Gln |
| ENST00000466610.6:c.493+6G>C | ENSP00000475149.1:n.493+6G>C |
| ENST00000540645.5:n.815G>C | |
| XR_930257.1:n.532-1976C>G |