Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4370413C>T , CM000674.2:g.4370413C>T | GRCh38 |
| NC_000012.11:g.4479579C>T , CM000674.1:g.4479579C>T | GRCh37 |
| NC_000012.10:g.4349840C>T | NCBI36 |
| NG_007087.1:g.14316G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020638.3:c.686G>A MANE Select | NP_065689.1:p.Gly229Asp |
| ENST00000237837.2:c.686G>A MANE Select | ENSP00000237837.1:p.Gly229Asp |
| NM_020638.2:c.686G>A | NP_065689.1:p.Gly229Asp |
| ENST00000237837.1:c.686G>A | ENSP00000237837.1:p.Gly229Asp |
| ENST00000648100.1:c.*1967+4131C>T | ENSP00000497536.1:n.*1967+4131C>T |
| ENST00000674624.1:c.*1204+4131C>T | ENSP00000501898.1:n.*1204+4131C>T |