Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.129470814T>C , CM000674.2:g.129470814T>C | GRCh38 |
| NC_000012.11:g.129955359T>C , CM000674.1:g.129955359T>C | GRCh37 |
| NC_000012.10:g.128521312T>C | NCBI36 |
| NG_052808.1:g.437854A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422113.7:c.1115+60245A>G MANE Select | ENSP00000408581.2:n.1115+60245A>G | |
| ENST00000422113.6:c.1115+60245A>G | ENSP00000408581.2:n.1115+60245A>G | |
| ENST00000619366.1:c.1055+60245A>G | ENSP00000478824.1:n.1055+60245A>G | |
| NM_133448.2:c.1115+60245A>G | NP_597705.2:n.1115+60245A>G | |
| XM_011537894.1:c.969-132997A>G | XP_011536196.1:n.969-132997A>G | |
| NM_133448.3:c.1115+60245A>G MANE Select | NP_597705.2:n.1115+60245A>G |