Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909096G>A , CM000679.2:g.42909096G>A | GRCh38 |
| NC_000017.10:g.41061113G>A , CM000679.1:g.41061113G>A | GRCh37 |
| NC_000017.9:g.38314639G>A | NCBI36 |
| NG_011808.1:g.13299G>A , LRG_147:g.13299G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.447-207G>A MANE Select | ENSP00000253801.1:n.447-207G>A | |
| ENST00000253801.6:c.447-207G>A | ENSP00000253801.1:n.447-207G>A | |
| ENST00000585489.1:c.446+1468G>A | ENSP00000466202.1:n.446+1468G>A | |
| ENST00000592383.5:c.370-207G>A | ENSP00000465958.1:n.370-207G>A | |
| NM_000151.3:c.447-207G>A | NP_000142.2:n.447-207G>A | |
| NM_001270397.1:c.370-207G>A | NP_001257326.1:n.370-207G>A | |
| NM_000151.4:c.447-207G>A MANE Select | NP_000142.2:n.447-207G>A | |
| NM_001270397.2:c.370-207G>A | NP_001257326.1:n.370-207G>A |