Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74751854G>A , CM000677.2:g.74751854G>A | GRCh38 |
| NC_000015.9:g.75044195G>A , CM000677.1:g.75044195G>A | GRCh37 |
| NC_000015.8:g.72831248G>A | NCBI36 |
| NG_008431.1:g.34313G>A | |
| NG_008431.2:g.34313G>A | |
| NG_061543.1:g.8010G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000761.5:c.1042G>A MANE Select | NP_000752.2:p.Asp348Asn |
| ENST00000343932.5:c.1042G>A MANE Select | ENSP00000342007.4:p.Asp348Asn |
| NM_000761.4:c.1042G>A | NP_000752.2:p.Asp348Asn |
| ENST00000343932.4:c.1042G>A | ENSP00000342007.4:p.Asp348Asn |