Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56249280T>A , CM000682.2:g.56249280T>A | GRCh38 |
| NC_000020.10:g.54824336T>A , CM000682.1:g.54824336T>A | GRCh37 |
| NC_000020.9:g.54257743T>A | NCBI36 |
| NG_012200.1:g.5549T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019888.3:c.437T>A MANE Select | NP_063941.3:p.Ile146Asn |
| ENST00000243911.2:c.437T>A MANE Select | ENSP00000243911.2:p.Ile146Asn |