Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1235179G>A , CM000673.2:g.1235179G>A | GRCh38 |
| NC_000011.9:g.1256409G>A , CM000673.1:g.1256409G>A | GRCh37 |
| NC_000011.8:g.1212985G>A | NCBI36 |
| NG_031880.1:g.17115G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002458.3:c.2725G>A MANE Select | NP_002449.2:p.Asp909Asn |
| ENST00000529681.5:c.2725G>A MANE Select | ENSP00000436812.1:p.Asp909Asn |
| NM_002458.2:c.2725G>A | NP_002449.2:p.Asp909Asn |
| ENST00000525715.5:n.2783G>A |