Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373330C= , CM000672.2:g.133373330C= | GRCh38 |
| NC_000010.10:g.135186834C= , CM000672.1:g.135186834C= | GRCh37 |
| NC_000010.9:g.135036824C= | NCBI36 |
| NG_042077.1:g.5075G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.4G= MANE Select | ENSP00000357535.3:p.Ala2= | |
| ENST00000368547.3:c.4G= | ENSP00000357535.3:p.Ala2= | |
| NM_004092.3:c.4G= | NP_004083.3:p.Ala2= | |
| XR_002956965.1:n.67G= | ||
| NM_004092.4:c.4G= MANE Select | NP_004083.3:p.Ala2= |