Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174822C= , CM000674.2:g.21174822C= | GRCh38 |
| NC_000012.11:g.21327756C= , CM000674.1:g.21327756C= | GRCh37 |
| NC_000012.10:g.21219023C= | NCBI36 |
| NG_011745.1:g.48629C= , LRG_1022:g.48629C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.359+113C= MANE Select | ENSP00000256958.2:n.359+113C= | |
| ENST00000256958.2:c.359+113C= | ENSP00000256958.2:n.359+113C= | |
| ENST00000543498.5:c.426-1954C= | ||
| NM_006446.4:c.359+113C= , LRG_1022t1:c.359+113C= | NP_006437.3:n.359+113C= | |
| NM_006446.5:c.359+113C= MANE Select | NP_006437.3:n.359+113C= |