Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589695T= , CM000663.2:g.161589695T= | GRCh38 |
| NC_000001.10:g.161559485T= , CM000663.1:g.161559485T= | GRCh37 |
| NC_000001.9:g.159826109T= | NCBI36 |
| NG_011982.1:g.13357T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40664A= | ENSP00000514363.1:n.41-40664A= | |
| ENST00000699403.1:c.61+40673A= | ENSP00000514364.1:n.61+40673A= | |
| ENST00000465075.6:n.359T= | ||
| ENST00000466542.6:c.267T= | ENSP00000426627.1:p.Asn89= | |
| ENST00000473530.6:n.448T= | ||
| ENST00000473712.6:n.289T= | ||
| ENST00000482226.2:n.246T= | ||
| ENST00000496692.6:n.363T= | ||
| ENST00000502411.5:n.564T= | ||
| ENST00000543859.5:c.264T= | ENSP00000444663.2:p.Asn88= | |
| ENST00000611236.1:c.264T= | ENSP00000480953.1:p.Asn88= | |
| NR_047648.1:n.366T= |