Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474682C= , CM000684.2:g.32474682C= | GRCh38 |
| NC_000022.10:g.32870669C= , CM000684.1:g.32870669C= | GRCh37 |
| NC_000022.9:g.31200669C= | NCBI36 |
| NG_016001.1:g.4963C= | |
| NG_016001.2:g.4963C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.11:c.-321C= | ENSP00000266087.7:n.-321C= | |
| ENST00000420700.5:c.-321C= | ENSP00000406155.1:n.-321C= | |
| XM_011530106.1:c.-494C= | XP_011528408.1:n.-494C= | |
| XM_024452207.1:c.-511C= | XP_024307975.1:n.-511C= |