Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173234A= , CM000678.2:g.173234A= | GRCh38 |
| NC_000016.9:g.223233A= , CM000678.1:g.223233A= | GRCh37 |
| NC_000016.8:g.163233A= | NCBI36 |
| NG_000006.1:g.34097A= | |
| NG_059186.1:g.1584A= | |
| NG_059271.1:g.5388A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.205A= MANE Select | ENSP00000251595.6:p.Asn69= | |
| ENST00000251595.10:c.205A= | ENSP00000251595.6:p.Asn69= | |
| ENST00000397806.1:c.109A= | ENSP00000380908.1:p.Asn37= | |
| ENST00000482565.1:n.341A= | ||
| ENST00000484216.1:n.174A= | ||
| NM_000517.4:c.205A= | NP_000508.1:p.Asn69= | |
| NM_000517.6:c.205A= MANE Select | NP_000508.1:p.Asn69= |