Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.29167581A>C , CM000665.2:g.29167581A>C | GRCh38 |
| NC_000003.11:g.29209072A>C , CM000665.1:g.29209072A>C | GRCh37 |
| NC_000003.10:g.29184076A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000635992.1:c.*409-15375A>C | ENSP00000489994.1:n.*409-15375A>C | |
| ENST00000636582.1:n.353-15375A>C | ||
| ENST00000636680.2:c.283-15375A>C | ENSP00000490271.2:n.283-15375A>C | |
| ENST00000636900.1:n.239-15375A>C | ||
| ENST00000637842.1:c.149-15375A>C | ENSP00000489718.1:n.149-15375A>C |