Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373272C>A , CM000672.2:g.133373272C>A | GRCh38 |
| NC_000010.10:g.135186776C>A , CM000672.1:g.135186776C>A | GRCh37 |
| NC_000010.9:g.135036766C>A | NCBI36 |
| NG_042077.1:g.5133G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.62G>T MANE Select | ENSP00000357535.3:p.Cys21Phe | |
| ENST00000368547.3:c.62G>T | ENSP00000357535.3:p.Cys21Phe | |
| NM_004092.3:c.62G>T | NP_004083.3:p.Cys21Phe | |
| XR_002956965.1:n.125G>T | ||
| NM_004092.4:c.62G>T MANE Select | NP_004083.3:p.Cys21Phe |