Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50578826G= , CM000684.2:g.50578826G= | GRCh38 |
| NC_000022.10:g.51017255G= , CM000684.1:g.51017255G= | GRCh37 |
| NC_000022.9:g.49364121G= | NCBI36 |
| NG_012643.1:g.4842C= | |
| NG_029213.1:g.9174C= , LRG_855:g.9174C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452668.1:n.320-167C= | ||
| ENST00000453634.5:c.329-167C= | ENSP00000457031.1:n.329-167C= | |
| ENST00000492556.5:n.2189+210C= | ||
| NR_027928.2:n.1551+210C= |