Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133370649A>G , CM000672.2:g.133370649A>G | GRCh38 |
| NC_000010.10:g.135184153A>G , CM000672.1:g.135184153A>G | GRCh37 |
| NC_000010.9:g.135034143A>G | NCBI36 |
| NG_042077.1:g.7756T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004092.4:c.197T>C MANE Select | NP_004083.3:p.Ile66Thr |
| ENST00000368547.4:c.197T>C MANE Select | ENSP00000357535.3:p.Ile66Thr |
| NM_004092.3:c.197T>C | NP_004083.3:p.Ile66Thr |
| ENST00000368547.3:c.197T>C | ENSP00000357535.3:p.Ile66Thr |
| XR_002956965.1:n.260T>C |