Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20990518G>A , CM000684.2:g.20990518G>A | GRCh38 |
| NC_000022.10:g.21344807G>A , CM000684.1:g.21344807G>A | GRCh37 |
| NC_000022.9:g.19674807G>A | NCBI36 |
| NG_034193.1:g.13250G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006767.4:c.784G>A MANE Select | NP_006758.2:p.Asp262Asn |
| ENST00000646124.2:c.784G>A MANE Select | ENSP00000496779.1:p.Asp262Asn |
| NM_006767.3:c.784G>A | NP_006758.2:p.Asp262Asn |
| ENST00000215739.12:c.784G>A | ENSP00000215739.8:p.Asp262Asn |
| ENST00000414985.5:c.*350G>A | ENSP00000397247.1:n.*350G>A |
| ENST00000479606.5:n.930G>A | |
| ENST00000480895.1:n.480G>A | |
| ENST00000497716.5:n.167G>A | |
| ENST00000642151.1:c.615G>A | |
| ENST00000646506.1:n.363G>A | |
| ENST00000700578.1:c.784G>A | ENSP00000515073.1:p.Asp262Asn |