Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94522050A>G , CM000673.2:g.94522050A>G | GRCh38 |
| NC_000011.9:g.94255216A>G , CM000673.1:g.94255216A>G | GRCh37 |
| NC_000011.8:g.93894864A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542198.3:c.250+4363A>G MANE Select | ENSP00000490577.1:n.250+4363A>G | |
| NM_001190462.1:c.250+4363A>G | NP_001177391.1:n.250+4363A>G | |
| NM_001190462.2:c.250+4363A>G MANE Select | NP_001177391.1:n.250+4363A>G |