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