Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50578825G= , CM000684.2:g.50578825G= | GRCh38 |
| NC_000022.10:g.51017254G= , CM000684.1:g.51017254G= | GRCh37 |
| NC_000022.9:g.49364120G= | NCBI36 |
| NG_012643.1:g.4843C= | |
| NG_029213.1:g.9175C= , LRG_855:g.9175C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452668.1:n.320-166C= | ||
| ENST00000453634.5:c.329-166C= | ENSP00000457031.1:n.329-166C= | |
| ENST00000492556.5:n.2189+211C= | ||
| NR_027928.2:n.1551+211C= |