Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431922G>C , CM000663.2:g.229431922G>C | GRCh38 |
| NC_000001.10:g.229567669G>C , CM000663.1:g.229567669G>C | GRCh37 |
| NC_000001.9:g.227634292G>C | NCBI36 |
| NG_006672.1:g.7175C>G , LRG_429:g.7175C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.809-20C>G | ENSP00000355644.4:n.809-20C>G | |
| ENST00000684723.1:c.674-20C>G | ENSP00000508084.1:n.674-20C>G | |
| ENST00000366683.3:c.480-60C>G | ENSP00000355644.3:n.480-60C>G | |
| ENST00000366684.7:c.809-20C>G MANE Select | ENSP00000355645.3:n.809-20C>G | |
| NM_001100.3:c.809-20C>G , LRG_429t1:c.809-20C>G | NP_001091.1:n.809-20C>G | |
| NM_001100.4:c.809-20C>G MANE Select | NP_001091.1:n.809-20C>G |