Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21239517A= , CM000674.2:g.21239517A= | GRCh38 |
| NC_000012.11:g.21392451A= , CM000674.1:g.21392451A= | GRCh37 |
| NC_000012.10:g.21283718A= | NCBI36 |
| NG_011745.1:g.113324A= , LRG_1022:g.113324A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.*328A= MANE Select | NP_006437.3:n.*328A= |
| ENST00000256958.3:c.*328A= MANE Select | ENSP00000256958.2:n.*328A= |
| NM_006446.4:c.*328A= , LRG_1022t1:c.*328A= | NP_006437.3:n.*328A= |