Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32310525G>C , CM000682.2:g.32310525G>C | GRCh38 |
| NC_000020.10:g.30898328G>C , CM000682.1:g.30898328G>C | GRCh37 |
| NC_000020.9:g.30361989G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004798.4:c.748G>C MANE Select | NP_004789.1:p.Glu250Gln |
| ENST00000375712.4:c.748G>C MANE Select | ENSP00000364864.3:p.Glu250Gln |
| NM_004798.3:c.748G>C | NP_004789.1:p.Glu250Gln |
| ENST00000375712.3:c.748G>C | ENSP00000364864.3:p.Glu250Gln |
| XR_001754435.2:n.928G>C |