Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583870C>T , CM000679.2:g.41583870C>T | GRCh38 |
| NC_000017.10:g.39740122C>T , CM000679.1:g.39740122C>T | GRCh37 |
| NC_000017.9:g.36993648C>T | NCBI36 |
| NG_008624.1:g.8026G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.817G>A MANE Select | ENSP00000167586.6:p.Asp273Asn | |
| ENST00000167586.6:c.817G>A | ENSP00000167586.6:p.Asp273Asn | |
| ENST00000476662.1:n.267G>A | ||
| NM_000526.4:c.817G>A | NP_000517.2:p.Asp273Asn | |
| NM_000526.5:c.817G>A MANE Select | NP_000517.3:p.Asp273Asn |