Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69354033C>A , CM000674.2:g.69354033C>A | GRCh38 |
| NC_000012.11:g.69747813C>A , CM000674.1:g.69747813C>A | GRCh37 |
| NC_000012.10:g.68034080C>A | NCBI36 |
| NG_008195.1:g.10680C>A , LRG_768:g.10680C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*814C>A MANE Select | ENSP00000261267.2:n.*814C>A | |
| ENST00000261267.6:c.*814C>A | ENSP00000261267.2:n.*814C>A | |
| NM_000239.2:c.*814C>A , LRG_768t1:c.*814C>A | NP_000230.1:n.*814C>A | |
| NM_000239.3:c.*814C>A MANE Select | NP_000230.1:n.*814C>A |