Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18788472C>T , CM000681.2:g.18788472C>T | GRCh38 |
| NC_000019.9:g.18899281C>T , CM000681.1:g.18899281C>T | GRCh37 |
| NC_000019.8:g.18760281C>T | NCBI36 |
| NG_007070.1:g.7834G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.805G>A MANE Select | NP_000086.2:p.Asp269Asn |
| ENST00000222271.7:c.805G>A MANE Select | ENSP00000222271.2:p.Asp269Asn |
| NM_000095.2:c.805G>A | NP_000086.2:p.Asp269Asn |
| ENST00000222271.6:c.805G>A | ENSP00000222271.2:p.Asp269Asn |
| ENST00000425807.1:c.646G>A | ENSP00000403792.1:p.Asp216Asn |
| ENST00000542601.6:c.706G>A | ENSP00000439156.2:p.Asp236Asn |