Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.30738767A>G , CM000675.2:g.30738767A>G | GRCh38 |
| NC_000013.10:g.31312904A>G , CM000675.1:g.31312904A>G | GRCh37 |
| NC_000013.9:g.30210904A>G | NCBI36 |
| NG_011963.2:g.30290A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380490.5:c.70+3092A>G MANE Select | ENSP00000369858.3:n.70+3092A>G | |
| ENST00000380490.4:c.70+3092A>G | ENSP00000369858.3:n.70+3092A>G | |
| ENST00000617770.4:c.241+3092A>G | ENSP00000479870.1:n.241+3092A>G | |
| NM_001204406.1:c.241+3092A>G | NP_001191335.1:n.241+3092A>G | |
| NM_001629.3:c.70+3092A>G | NP_001620.2:n.70+3092A>G | |
| XM_011535024.1:c.70+3092A>G | XP_011533326.1:n.70+3092A>G | |
| NM_001204406.2:c.241+3092A>G | NP_001191335.1:n.241+3092A>G | |
| NM_001629.4:c.70+3092A>G MANE Select | NP_001620.2:n.70+3092A>G |