Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62418980A= , CM000673.2:g.62418980A= | GRCh38 |
| NC_000011.9:g.62186452A= , CM000673.1:g.62186452A= | GRCh37 |
| NC_000011.8:g.61943028A= | NCBI36 |
| NG_021331.1:g.4946A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000534397.5:c.-51+2343A= | ENSP00000432866.1:n.-51+2343A= | |
| XR_950170.1:n.378-2130T= | ||
| XR_950171.1:n.234-2130T= | ||
| XR_950172.1:n.234-2130T= | ||
| XR_950173.1:n.234-2130T= | ||
| XR_950174.1:n.234-2130T= | ||
| XR_001748247.1:n.348-2130T= | ||
| XR_001748248.1:n.453-2130T= | ||
| XR_001748249.1:n.459-2130T= | ||
| XR_001748250.1:n.455-2130T= | ||
| XR_001748252.1:n.460-2130T= | ||
| XR_001748253.1:n.180-2130T= | ||
| XR_001748254.1:n.461-2130T= | ||
| XR_002957250.1:n.451-2130T= |