Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909191A>T , CM000679.2:g.42909191A>T | GRCh38 |
| NC_000017.10:g.41061208A>T , CM000679.1:g.41061208A>T | GRCh37 |
| NC_000017.9:g.38314734A>T | NCBI36 |
| NG_011808.1:g.13394A>T , LRG_147:g.13394A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.447-112A>T MANE Select | ENSP00000253801.1:n.447-112A>T | |
| ENST00000253801.6:c.447-112A>T | ENSP00000253801.1:n.447-112A>T | |
| ENST00000585489.1:c.446+1563A>T | ENSP00000466202.1:n.446+1563A>T | |
| ENST00000592383.5:c.370-112A>T | ENSP00000465958.1:n.370-112A>T | |
| NM_000151.3:c.447-112A>T | NP_000142.2:n.447-112A>T | |
| NM_001270397.1:c.370-112A>T | NP_001257326.1:n.370-112A>T | |
| NM_000151.4:c.447-112A>T MANE Select | NP_000142.2:n.447-112A>T | |
| NM_001270397.2:c.370-112A>T | NP_001257326.1:n.370-112A>T |