Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67930092C>T , CM000678.2:g.67930092C>T | GRCh38 |
| NC_000016.9:g.67963995C>T , CM000678.1:g.67963995C>T | GRCh37 |
| NC_000016.8:g.66521496C>T | NCBI36 |
| NG_051639.1:g.6784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574481.6:c.637G>A MANE Select | ENSP00000458537.2:p.Asp213Asn | |
| ENST00000571044.5:c.442-10G>A | ENSP00000461842.1:n.442-10G>A | |
| ENST00000571605.1:c.514G>A | ENSP00000458598.1:p.Asp172Asn | |
| ENST00000572144.5:n.1847G>A | ||
| ENST00000574481.5:c.637G>A | ENSP00000458537.2:p.Asp213Asn | |
| ENST00000575231.1:n.5207G>A | ||
| ENST00000576915.1:n.967G>A | ||
| NM_001907.2:c.637G>A | NP_001898.1:p.Asp213Asn | |
| NM_001907.3:c.637G>A MANE Select | NP_001898.1:p.Asp213Asn |