Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624185T= , CM000679.2:g.41624185T= | GRCh38 |
| NC_000017.10:g.39780437T= , CM000679.1:g.39780437T= | GRCh37 |
| NC_000017.9:g.37033963T= | NCBI36 |
| NG_008625.1:g.5446A= | |
| NG_009090.2:g.167528A= , LRG_401:g.167528A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.325A= MANE Select | ENSP00000308452.8:p.Asn109= | |
| ENST00000311208.12:c.325A= | ENSP00000308452.8:p.Asn109= | |
| ENST00000463128.5:c.-291A= | ENSP00000468672.1:n.-291A= | |
| ENST00000491673.1:n.391A= | ||
| ENST00000493253.5:n.112A= | ||
| ENST00000540235.5:c.76A= | ENSP00000441751.2:p.Asn26= | |
| ENST00000577817.3:c.280A= | ENSP00000467418.1:p.Asn94= | |
| NM_000422.2:c.325A= | NP_000413.1:p.Asn109= | |
| NM_000422.3:c.325A= MANE Select | NP_000413.1:p.Asn109= |