Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133370617C>G , CM000672.2:g.133370617C>G | GRCh38 |
| NC_000010.10:g.135184121C>G , CM000672.1:g.135184121C>G | GRCh37 |
| NC_000010.9:g.135034111C>G | NCBI36 |
| NG_042077.1:g.7788G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.229G>C MANE Select | ENSP00000357535.3:p.Glu77Gln | |
| ENST00000368547.3:c.229G>C | ENSP00000357535.3:p.Glu77Gln | |
| NM_004092.3:c.229G>C | NP_004083.3:p.Glu77Gln | |
| XR_002956965.1:n.292G>C | ||
| NM_004092.4:c.229G>C MANE Select | NP_004083.3:p.Glu77Gln |