Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16525269C>T , CM000681.2:g.16525269C>T | GRCh38 |
| NC_000019.9:g.16636080C>T , CM000681.1:g.16636080C>T | GRCh37 |
| NC_000019.8:g.16497080C>T | NCBI36 |
| NG_031959.2:g.107936G>A , LRG_422:g.107936G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006387.6:c.1714G>A MANE Select | NP_006378.3:p.Asp572Asn |
| ENST00000546361.7:c.1714G>A MANE Select | ENSP00000439856.2:p.Asp572Asn |
| NM_006387.5:c.1714G>A | NP_006378.3:p.Asp572Asn |
| ENST00000198939.6:c.1747G>A | ENSP00000198939.6:p.Asp583Asn |
| ENST00000409035.1:c.*194-5917G>A | ENSP00000386951.2:n.*194-5917G>A |
| ENST00000544299.5:n.516G>A | |
| ENST00000546361.6:c.1714G>A | ENSP00000439856.2:p.Asp572Asn |