Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986023G>A , CM000678.2:g.1986023G>A | GRCh38 |
| NC_000016.9:g.2036024G>A , CM000678.1:g.2036024G>A | GRCh37 |
| NC_000016.8:g.1976025G>A | NCBI36 |
| NG_016288.1:g.6875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.388G>A | ENSP00000455885.1:p.Asp130Asn | |
| ENST00000248114.7:c.613G>A MANE Select | ENSP00000248114.6:p.Asp205Asn | |
| ENST00000248114.6:c.613G>A | ENSP00000248114.6:p.Asp205Asn | |
| ENST00000565658.1:n.770G>A | ||
| ENST00000567719.1:c.388G>A | ENSP00000455885.1:p.Asp130Asn | |
| ENST00000569451.1:c.*86G>A | ENSP00000456432.1:n.*86G>A | |
| NM_005262.2:c.613G>A | NP_005253.3:p.Asp205Asn | |
| NM_005262.3:c.613G>A MANE Select | NP_005253.3:p.Asp205Asn |