Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373329G>T , CM000672.2:g.133373329G>T | GRCh38 |
| NC_000010.10:g.135186833G>T , CM000672.1:g.135186833G>T | GRCh37 |
| NC_000010.9:g.135036823G>T | NCBI36 |
| NG_042077.1:g.5076C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368547.4:c.5C>A MANE Select | ENSP00000357535.3:p.Ala2Asp | |
| ENST00000368547.3:c.5C>A | ENSP00000357535.3:p.Ala2Asp | |
| NM_004092.3:c.5C>A | NP_004083.3:p.Ala2Asp | |
| XR_002956965.1:n.68C>A | ||
| NM_004092.4:c.5C>A MANE Select | NP_004083.3:p.Ala2Asp |