Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21182256C= , CM000674.2:g.21182256C= | GRCh38 |
| NC_000012.11:g.21335190C= , CM000674.1:g.21335190C= | GRCh37 |
| NC_000012.10:g.21226457C= | NCBI36 |
| NG_011745.1:g.56063C= , LRG_1022:g.56063C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.727+3236C= MANE Select | NP_006437.3:n.727+3236C= |
| ENST00000256958.3:c.727+3236C= MANE Select | ENSP00000256958.2:n.727+3236C= |
| NM_006446.4:c.727+3236C= , LRG_1022t1:c.727+3236C= | NP_006437.3:n.727+3236C= |
| ENST00000256958.2:c.727+3236C= | ENSP00000256958.2:n.727+3236C= |