Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1539491G>C , CM000663.2:g.1539491G>C | GRCh38 |
| NC_000001.10:g.1474871G>C , CM000663.1:g.1474871G>C | GRCh37 |
| NC_000001.9:g.1464734G>C | NCBI36 |
| NG_041807.1:g.5870C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.164+193C>G MANE Select | ENSP00000368007.4:n.164+193C>G | |
| ENST00000378733.8:c.164+193C>G | ENSP00000368007.4:n.164+193C>G | |
| ENST00000425828.1:c.164+193C>G | ENSP00000400311.1:n.164+193C>G | |
| ENST00000624426.1:c.*189C>G | ENSP00000485135.1:n.*189C>G | |
| NM_001114748.1:c.164+193C>G | NP_001108220.1:n.164+193C>G | |
| NM_001114748.2:c.164+193C>G MANE Select | NP_001108220.1:n.164+193C>G |