Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121638011T>C , CM000674.2:g.121638011T>C | GRCh38 |
| NC_000012.11:g.122075917T>C , CM000674.1:g.122075917T>C | GRCh37 |
| NC_000012.10:g.120560300T>C | NCBI36 |
| NG_007500.1:g.16437T>C , LRG_93:g.16437T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032790.3:c.304-3030T>C , LRG_93t1:c.304-3030T>C | NP_116179.2:n.304-3030T>C |
| ENST00000611718.1:c.239-3030T>C | ENSP00000477953.1:n.239-3030T>C |
| ENST00000616379.1:c.304-3030T>C | ENSP00000480616.1:n.304-3030T>C |
| ENST00000617316.1:c.115-3030T>C | ENSP00000482568.1:n.115-3030T>C |
| ENST00000617316.2:c.304-3030T>C | ENSP00000482568.2:n.304-3030T>C |
| ENST00000646827.1:n.502-3030T>C | |
| ENST00000698901.1:n.426-3030T>C |