Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589643G= , CM000663.2:g.161589643G= | GRCh38 |
| NC_000001.10:g.161559433G= , CM000663.1:g.161559433G= | GRCh37 |
| NC_000001.9:g.159826057G= | NCBI36 |
| NG_011982.1:g.13305G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40612C= | ENSP00000514363.1:n.41-40612C= | |
| ENST00000699403.1:c.61+40725C= | ENSP00000514364.1:n.61+40725C= | |
| ENST00000465075.6:n.307G= | ||
| ENST00000466542.6:c.215G= | ENSP00000426627.1:p.Arg72= | |
| ENST00000473530.6:n.396G= | ||
| ENST00000473712.6:n.237G= | ||
| ENST00000482226.2:n.194G= | ||
| ENST00000496692.6:n.311G= | ||
| ENST00000502411.5:n.512G= | ||
| ENST00000543859.5:c.212G= | ENSP00000444663.2:p.Arg71= | |
| ENST00000611236.1:c.212G= | ENSP00000480953.1:p.Arg71= | |
| NR_047648.1:n.314G= |