Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21229685T= , CM000674.2:g.21229685T= | GRCh38 |
| NC_000012.11:g.21382619T= , CM000674.1:g.21382619T= | GRCh37 |
| NC_000012.10:g.21273886T= | NCBI36 |
| NG_011745.1:g.103492T= , LRG_1022:g.103492T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.1865+4846T= MANE Select | NP_006437.3:n.1865+4846T= |
| ENST00000256958.3:c.1865+4846T= MANE Select | ENSP00000256958.2:n.1865+4846T= |
| NM_006446.4:c.1865+4846T= , LRG_1022t1:c.1865+4846T= | NP_006437.3:n.1865+4846T= |
| ENST00000256958.2:c.1865+4846T= | ENSP00000256958.2:n.1865+4846T= |