Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624242T= , CM000679.2:g.41624242T= | GRCh38 |
| NC_000017.10:g.39780494T= , CM000679.1:g.39780494T= | GRCh37 |
| NC_000017.9:g.37034020T= | NCBI36 |
| NG_008625.1:g.5389A= | |
| NG_009090.2:g.167471A= , LRG_401:g.167471A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.268A= MANE Select | ENSP00000308452.8:p.Asn90= | |
| ENST00000311208.12:c.268A= | ENSP00000308452.8:p.Asn90= | |
| ENST00000463128.5:c.-312-36A= | ENSP00000468672.1:n.-312-36A= | |
| ENST00000491673.1:n.334A= | ||
| ENST00000493253.5:n.55A= | ||
| ENST00000540235.5:c.63A= | ENSP00000441751.2:p.Arg21= | |
| ENST00000577817.3:c.223A= | ENSP00000467418.1:p.Asn75= | |
| NM_000422.2:c.268A= | NP_000413.1:p.Asn90= | |
| NM_000422.3:c.268A= MANE Select | NP_000413.1:p.Asn90= |