Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12107822C>G , CM000672.2:g.12107822C>G | GRCh38 |
| NC_000010.10:g.12149821C>G , CM000672.1:g.12149821C>G | GRCh37 |
| NC_000010.9:g.12189827C>G | NCBI36 |
| NG_033248.1:g.43906C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.2048-87C>G MANE Select | ENSP00000263035.4:n.2048-87C>G | |
| ENST00000263035.8:c.2048-87C>G | ENSP00000263035.4:n.2048-87C>G | |
| ENST00000448829.1:c.551-87C>G | ||
| NM_018706.6:c.2048-87C>G | NP_061176.3:n.2048-87C>G | |
| NM_018706.7:c.2048-87C>G MANE Select | NP_061176.4:n.2048-87C>G |