Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34439157C>G , CM000673.2:g.34439157C>G | GRCh38 |
| NC_000011.9:g.34460704C>G , CM000673.1:g.34460704C>G | GRCh37 |
| NC_000011.8:g.34417280C>G | NCBI36 |
| NG_013339.1:g.5233C>G | |
| NG_013339.2:g.5233C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241052.5:c.66+78C>G MANE Select | ENSP00000241052.4:n.66+78C>G | |
| ENST00000241052.4:c.66+78C>G | ENSP00000241052.4:n.66+78C>G | |
| NM_001752.3:c.66+78C>G | NP_001743.1:n.66+78C>G | |
| NM_001752.4:c.66+78C>G MANE Select | NP_001743.1:n.66+78C>G |