Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47331758C= , CM000673.2:g.47331758C= | GRCh38 |
| NC_000011.9:g.47353309C= , CM000673.1:g.47353309C= | GRCh37 |
| NC_000011.8:g.47309885C= | NCBI36 |
| NG_007667.1:g.25945G= , LRG_386:g.25945G= | |
| NG_029462.1:g.67383C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.*27-42G= MANE Select | ENSP00000442795.1:n.*27-42G= | |
| ENST00000256993.8:c.*27-42G= | ENSP00000256993.5:n.*27-42G= | |
| ENST00000399249.6:c.*27-42G= | ENSP00000382193.2:n.*27-42G= | |
| ENST00000545968.5:c.*27-42G= | ENSP00000442795.1:n.*27-42G= | |
| NM_000256.3:c.*27-42G= , LRG_386t1:c.*27-42G= MANE Select | NP_000247.2:n.*27-42G= | |
| XM_011520117.1:c.*27-42G= | XP_011518419.1:n.*27-42G= | |
| XM_011520118.1:c.*27-42G= | XP_011518420.1:n.*27-42G= |