Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241801866A>G , CM000664.2:g.241801866A>G | GRCh38 |
| NC_000002.11:g.242741281A>G , CM000664.1:g.242741281A>G | GRCh37 |
| NC_000002.10:g.242389954A>G | NCBI36 |
| NG_046977.1:g.30042A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192314.7:c.205A>G MANE Select | ENSP00000192314.6:p.Asn69Asp | |
| ENST00000192314.6:c.205A>G | ENSP00000192314.6:p.Asn69Asp | |
| NM_022134.2:c.205A>G | NP_071417.2:p.Asn69Asp | |
| NM_022134.3:c.205A>G MANE Select | NP_071417.2:p.Asn69Asp |