Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584114C>G , CM000673.2:g.67584114C>G | GRCh38 |
| NC_000011.9:g.67351585C>G , CM000673.1:g.67351585C>G | GRCh37 |
| NC_000011.8:g.67108161C>G | NCBI36 |
| NG_012075.1:g.5520C>G , LRG_723:g.5520C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000852.4:c.2-20C>G MANE Select | NP_000843.1:n.2-20C>G |
| ENST00000398606.10:c.2-20C>G MANE Select | ENSP00000381607.3:n.2-20C>G |
| NM_000852.3:c.2-20C>G , LRG_723t1:c.2-20C>G | NP_000843.1:n.2-20C>G |
| ENST00000398603.5:c.2-20C>G | ENSP00000381604.1:n.2-20C>G |
| ENST00000398603.6:c.2-20C>G | ENSP00000381604.1:n.2-20C>G |
| ENST00000398606.7:c.2-20C>G | ENSP00000381607.3:n.2-20C>G |
| ENST00000494593.1:n.24-20C>G | |
| ENST00000646888.1:c.2-20C>G | ENSP00000494477.1:n.2-20C>G |