Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366925C>T , CM000672.2:g.133366925C>T | GRCh38 |
| NC_000010.10:g.135180429C>T , CM000672.1:g.135180429C>T | GRCh37 |
| NC_000010.9:g.135030419C>T | NCBI36 |
| NG_042077.1:g.11480G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004092.4:c.583G>A MANE Select | NP_004083.3:p.Gly195Ser |
| ENST00000368547.4:c.583G>A MANE Select | ENSP00000357535.3:p.Gly195Ser |
| NM_004092.3:c.583G>A | NP_004083.3:p.Gly195Ser |
| ENST00000368547.3:c.583G>A | ENSP00000357535.3:p.Gly195Ser |
| XR_002956965.1:n.646G>A |