Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154444A>C , CM000681.2:g.55154444A>C | GRCh38 |
| NC_000019.9:g.55665812A>C , CM000681.1:g.55665812A>C | GRCh37 |
| NC_000019.8:g.60357624A>C | NCBI36 |
| NG_007866.2:g.8289T>G , LRG_432:g.8289T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.373-238T>G MANE Select | ENSP00000341838.5:n.373-238T>G | |
| ENST00000665070.1:c.406-238T>G | ENSP00000499482.1:n.406-238T>G | |
| ENST00000344887.9:c.373-238T>G | ENSP00000341838.5:n.373-238T>G | |
| ENST00000585806.5:n.372-238T>G | ||
| ENST00000586669.5:n.381-238T>G | ||
| ENST00000587176.5:n.853T>G | ||
| ENST00000588882.1:c.298-238T>G | ENSP00000466729.1:n.298-238T>G | |
| NM_000363.4:c.373-238T>G , LRG_432t1:c.373-238T>G | NP_000354.4:n.373-238T>G | |
| NM_000363.5:c.373-238T>G MANE Select | NP_000354.4:n.373-238T>G |