Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755085T>C , CM000677.2:g.74755085T>C | GRCh38 |
| NG_008431.2:g.37544T>C | |
| NG_061543.1:g.11241T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000761.5:c.1548T>C MANE Select | NP_000752.2:p.Asn516= |
| ENST00000343932.5:c.1548T>C MANE Select | ENSP00000342007.4:p.Asn516= |
| NM_000761.4:c.1548T>C | NP_000752.2:p.Asn516= |
| ENST00000343932.4:c.1548T>C | ENSP00000342007.4:p.Asn516= |