Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12257090A>G , CM000663.2:g.12257090A>G | GRCh38 |
| NC_000001.10:g.12317147A>G , CM000663.1:g.12317147A>G | GRCh37 |
| NC_000001.9:g.12239734A>G | NCBI36 |
| NG_056877.1:g.32052A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.941+3A>G MANE Select | NP_056193.2:n.941+3A>G |
| ENST00000620676.6:c.941+3A>G MANE Select | ENSP00000478104.1:n.941+3A>G |
| NM_015378.3:c.941+3A>G | NP_056193.2:n.941+3A>G |
| NM_018156.3:c.941+3A>G | NP_060626.2:n.941+3A>G |
| NM_018156.4:c.941+3A>G | NP_060626.2:n.941+3A>G |
| ENST00000489961.1:n.422+3A>G | |
| ENST00000613099.4:c.941+3A>G | ENSP00000482233.1:n.941+3A>G |
| ENST00000620676.4:c.941+3A>G | ENSP00000478104.1:n.941+3A>G |