Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.29167587C>T , CM000665.2:g.29167587C>T | GRCh38 |
| NC_000003.11:g.29209078C>T , CM000665.1:g.29209078C>T | GRCh37 |
| NC_000003.10:g.29184082C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635992.1:c.*409-15369C>T | ENSP00000489994.1:n.*409-15369C>T | |
| ENST00000636582.1:n.353-15369C>T | ||
| ENST00000636680.2:c.283-15369C>T | ENSP00000490271.2:n.283-15369C>T | |
| ENST00000636900.1:n.239-15369C>T | ||
| ENST00000637842.1:c.149-15369C>T | ENSP00000489718.1:n.149-15369C>T |