Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21138540C= , CM000674.2:g.21138540C= | GRCh38 |
| NC_000012.11:g.21291474C= , CM000674.1:g.21291474C= | GRCh37 |
| NC_000012.10:g.21182741C= | NCBI36 |
| NG_011745.1:g.12347C= , LRG_1022:g.12347C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.-61-2974C= MANE Select | ENSP00000256958.2:n.-61-2974C= | |
| ENST00000256958.2:c.-61-2974C= | ENSP00000256958.2:n.-61-2974C= | |
| ENST00000543498.5:c.281-2974C= | ||
| ENST00000585342.5:c.485-2974C= | ENSP00000467594.1:n.485-2974C= | |
| ENST00000590779.5:c.491-2974C= | ||
| ENST00000592513.1:c.472-2974C= | ||
| NM_006446.4:c.-61-2974C= , LRG_1022t1:c.-61-2974C= | NP_006437.3:n.-61-2974C= | |
| NM_006446.5:c.-61-2974C= MANE Select | NP_006437.3:n.-61-2974C= |